rs1210846081
|
|
C |
0.800 |
GeneticVariation |
CLINVAR |
Clinical and molecular characterization defines a broadened spectrum of autosomal recessive polycystic kidney disease (ARPKD).
|
16523049 |
2006 |
rs1210846081
|
|
C |
0.800 |
GeneticVariation |
CLINVAR |
Comprehensive genomic analysis of PKHD1 mutations in ARPKD cohorts.
|
15805161 |
2005 |
rs1210846081
|
|
C |
0.800 |
GeneticVariation |
CLINVAR |
Milder presentation of recessive polycystic kidney disease requires presence of amino acid substitution mutations.
|
12874454 |
2003 |
rs1210846081
|
|
C |
0.800 |
GeneticVariation |
CLINVAR |
A complete mutation screen of PKHD1 in autosomal-recessive polycystic kidney disease (ARPKD) pedigrees.
|
12846734 |
2003 |
rs1210846081
|
|
C |
0.800 |
GeneticVariation |
CLINVAR |
G8: a novel domain associated with polycystic kidney disease and non-syndromic hearing loss.
|
16632497 |
2006 |
rs142107837
|
|
T |
0.800 |
GeneticVariation |
CLINVAR |
Milder presentation of recessive polycystic kidney disease requires presence of amino acid substitution mutations.
|
12874454 |
2003 |
rs142107837
|
|
T |
0.800 |
GeneticVariation |
CLINVAR |
Intragenic motifs regulate the transcriptional complexity of Pkhd1/PKHD1.
|
24984783 |
2014 |
rs142107837
|
|
T |
0.800 |
GeneticVariation |
CLINVAR |
Algorithm for efficient PKHD1 mutation screening in autosomal recessive polycystic kidney disease (ARPKD).
|
15706593 |
2005 |
rs142107837
|
|
T |
0.800 |
GeneticVariation |
CLINVAR |
Case Report: Whole-exome analysis of a child with polycystic kidney disease and ventriculomegaly.
|
25966130 |
2015 |
rs142107837
|
|
T |
0.800 |
GeneticVariation |
CLINVAR |
Molecular genetics of autosomal recessive polycystic kidney disease.
|
14741187 |
2004 |
rs142107837
|
|
T |
0.800 |
GeneticVariation |
CLINVAR |
Spectrum of mutations in the gene for autosomal recessive polycystic kidney disease (ARPKD/PKHD1).
|
12506140 |
2003 |
rs142107837
|
|
T |
0.800 |
GeneticVariation |
CLINVAR |
Clinical consequences of PKHD1 mutations in 164 patients with autosomal-recessive polycystic kidney disease (ARPKD).
|
15698423 |
2005 |
rs142107837
|
|
T |
0.800 |
GeneticVariation |
CLINVAR |
Comprehensive genomic analysis of PKHD1 mutations in ARPKD cohorts.
|
15805161 |
2005 |
rs148617572
|
|
A |
0.800 |
GeneticVariation |
CLINVAR |
Spectrum of mutations in the gene for autosomal recessive polycystic kidney disease (ARPKD/PKHD1).
|
12506140 |
2003 |
rs148617572
|
|
A |
0.800 |
GeneticVariation |
CLINVAR |
Comprehensive genomic analysis of PKHD1 mutations in ARPKD cohorts.
|
15805161 |
2005 |
rs148617572
|
|
A |
0.800 |
GeneticVariation |
CLINVAR |
PKHD1 mutations in families requesting prenatal diagnosis for autosomal recessive polycystic kidney disease (ARPKD).
|
15108281 |
2004 |
rs148617572
|
|
A |
0.800 |
GeneticVariation |
CLINVAR |
Genotype-phenotype correlations in fetuses and neonates with autosomal recessive polycystic kidney disease.
|
19940839 |
2010 |
rs1554218666
|
|
A |
0.800 |
GeneticVariation |
CLINVAR |
PKHD1 mutations in families requesting prenatal diagnosis for autosomal recessive polycystic kidney disease (ARPKD).
|
15108281 |
2004 |
rs1554218666
|
|
A |
0.800 |
GeneticVariation |
CLINVAR |
Expanding the mutation spectrum in 130 probands with ARPKD: identification of 62 novel PKHD1 mutations by sanger sequencing and MLPA analysis.
|
27225849 |
2016 |
rs200179145
|
|
T |
0.800 |
GeneticVariation |
CLINVAR |
A complete mutation screen of PKHD1 in autosomal-recessive polycystic kidney disease (ARPKD) pedigrees.
|
12846734 |
2003 |
rs200179145
|
|
T |
0.800 |
GeneticVariation |
CLINVAR |
The gene mutated in autosomal recessive polycystic kidney disease encodes a large, receptor-like protein.
|
11919560 |
2002 |
rs200179145
|
|
T |
0.800 |
GeneticVariation |
CLINVAR |
PKHD1 sequence variations in 78 children and adults with autosomal recessive polycystic kidney disease and congenital hepatic fibrosis.
|
19914852 |
2010 |
rs200179145
|
|
T |
0.800 |
GeneticVariation |
CLINVAR |
Clinical consequences of PKHD1 mutations in 164 patients with autosomal-recessive polycystic kidney disease (ARPKD).
|
15698423 |
2005 |
rs200179145
|
|
T |
0.800 |
GeneticVariation |
CLINVAR |
Clinical and molecular characterization defines a broadened spectrum of autosomal recessive polycystic kidney disease (ARPKD).
|
16523049 |
2006 |
rs200179145
|
|
T |
0.800 |
GeneticVariation |
CLINVAR |
PKHD1 mutations in autosomal recessive polycystic kidney disease (ARPKD).
|
15108277 |
2004 |