rs121908856
×
Entrez Id:
8671
Gene Symbol:
SLC4A4
SLC4A4
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation
0.800
GeneticVariation
UNIPROT
Functional analysis of a novel missense NBC1 mutation and of other mutations causing proximal renal tubular acidosis.
17661077
2008
rs121908857
×
Entrez Id:
8671
Gene Symbol:
SLC4A4
SLC4A4
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation
0.800
GeneticVariation
UNIPROT
Functional analysis of a novel missense NBC1 mutation and of other mutations causing proximal renal tubular acidosis.
17661077
2008
rs121908856
×
Entrez Id:
8671
Gene Symbol:
SLC4A4
SLC4A4
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation
0.800
GeneticVariation
UNIPROT
Proximal renal tubular acidosis and ocular pathology: a novel missense mutation in the gene (SLC4A4) for sodium bicarbonate cotransporter protein (NBCe1).
16636648
2006
rs121908857
×
Entrez Id:
8671
Gene Symbol:
SLC4A4
SLC4A4
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation
0.800
GeneticVariation
UNIPROT
Proximal renal tubular acidosis and ocular pathology: a novel missense mutation in the gene (SLC4A4) for sodium bicarbonate cotransporter protein (NBCe1).
16636648
2006
rs121908856
×
Entrez Id:
8671
Gene Symbol:
SLC4A4
SLC4A4
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation
0.800
GeneticVariation
UNIPROT
Functional analysis of NBC1 mutants associated with proximal renal tubular acidosis and ocular abnormalities.
15930088
2005
rs121908856
×
Entrez Id:
8671
Gene Symbol:
SLC4A4
SLC4A4
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation
0.800
GeneticVariation
UNIPROT
Missense mutations in Na+:HCO3- cotransporter NBC1 show abnormal trafficking in polarized kidney cells: a basis of proximal renal tubular acidosis.
15713912
2005
rs121908857
×
Entrez Id:
8671
Gene Symbol:
SLC4A4
SLC4A4
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation
0.800
GeneticVariation
UNIPROT
Missense mutations in Na+:HCO3- cotransporter NBC1 show abnormal trafficking in polarized kidney cells: a basis of proximal renal tubular acidosis.
15713912
2005
rs121908857
×
Entrez Id:
8671
Gene Symbol:
SLC4A4
SLC4A4
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation
0.800
GeneticVariation
UNIPROT
Functional analysis of NBC1 mutants associated with proximal renal tubular acidosis and ocular abnormalities.
15930088
2005
rs121908856
×
Entrez Id:
8671
Gene Symbol:
SLC4A4
SLC4A4
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation
0.800
GeneticVariation
UNIPROT
A novel missense mutation in the sodium bicarbonate cotransporter (NBCe1/SLC4A4) causes proximal tubular acidosis and glaucoma through ion transport defects.
15471865
2004
rs121908857
×
Entrez Id:
8671
Gene Symbol:
SLC4A4
SLC4A4
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation
0.800
GeneticVariation
UNIPROT
A novel missense mutation in the sodium bicarbonate cotransporter (NBCe1/SLC4A4) causes proximal tubular acidosis and glaucoma through ion transport defects.
15471865
2004
rs121908856
×
Entrez Id:
8671
Gene Symbol:
SLC4A4
SLC4A4
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation
0.800
GeneticVariation
UNIPROT
Mutations in SLC4A4 cause permanent isolated proximal renal tubular acidosis with ocular abnormalities.
10545938
1999
rs121908857
×
Entrez Id:
8671
Gene Symbol:
SLC4A4
SLC4A4
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation
0.800
GeneticVariation
UNIPROT
Mutations in SLC4A4 cause permanent isolated proximal renal tubular acidosis with ocular abnormalities.
10545938
1999
rs121908856
×
Entrez Id:
8671
Gene Symbol:
SLC4A4
SLC4A4
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation
C
0.800
CausalMutation
CLINVAR
rs121908857
×
Entrez Id:
8671
Gene Symbol:
SLC4A4
SLC4A4
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation
A
0.800
CausalMutation
CLINVAR
rs1203164637
×
Entrez Id:
8671
Gene Symbol:
SLC4A4
SLC4A4
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation
0.700
GeneticVariation
UNIPROT
Functional analysis of a novel missense NBC1 mutation and of other mutations causing proximal renal tubular acidosis.
17661077
2008
rs1203164637
×
Entrez Id:
8671
Gene Symbol:
SLC4A4
SLC4A4
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation
0.700
GeneticVariation
UNIPROT
Proximal renal tubular acidosis and ocular pathology: a novel missense mutation in the gene (SLC4A4) for sodium bicarbonate cotransporter protein (NBCe1).
16636648
2006
rs1203164637
×
Entrez Id:
8671
Gene Symbol:
SLC4A4
SLC4A4
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation
0.700
GeneticVariation
UNIPROT
Functional analysis of NBC1 mutants associated with proximal renal tubular acidosis and ocular abnormalities.
15930088
2005
rs1203164637
×
Entrez Id:
8671
Gene Symbol:
SLC4A4
SLC4A4
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation
0.700
GeneticVariation
UNIPROT
Missense mutations in Na+:HCO3- cotransporter NBC1 show abnormal trafficking in polarized kidney cells: a basis of proximal renal tubular acidosis.
15713912
2005
rs1203164637
×
Entrez Id:
8671
Gene Symbol:
SLC4A4
SLC4A4
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation
0.700
GeneticVariation
UNIPROT
A novel missense mutation in the sodium bicarbonate cotransporter (NBCe1/SLC4A4) causes proximal tubular acidosis and glaucoma through ion transport defects.
15471865
2004
rs1203164637
×
Entrez Id:
8671
Gene Symbol:
SLC4A4
SLC4A4
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation
0.700
GeneticVariation
UNIPROT
Mutations in SLC4A4 cause permanent isolated proximal renal tubular acidosis with ocular abnormalities.
10545938
1999
rs121908858
×
Entrez Id:
8671
Gene Symbol:
SLC4A4
SLC4A4
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation
T
0.700
CausalMutation
CLINVAR
rs1553913019
×
Entrez Id:
8671
Gene Symbol:
SLC4A4
SLC4A4
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation
G
0.700
GeneticVariation
CLINVAR