|
rs200179145
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
Large-scale targeted sequencing comparison highlights extreme genetic heterogeneity in nephronophthisis-related ciliopathies.
|
26673778 |
2016 |
|
rs200179145
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Consensus expert recommendations for the diagnosis and management of autosomal recessive polycystic kidney disease: report of an international conference.
|
25015577 |
2014 |
|
rs200179145
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
Correlation of kidney function, volume and imaging findings, and PKHD1 mutations in 73 patients with autosomal recessive polycystic kidney disease.
|
20413436 |
2010 |
|
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 |
CausalMutation |
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 and molecular characterization defines a broadened spectrum of autosomal recessive polycystic kidney disease (ARPKD).
|
16523049 |
2006 |
|
rs200179145
|
|
T |
0.800 |
GeneticVariation |
CLINVAR |
Comprehensive genomic analysis of PKHD1 mutations in ARPKD cohorts.
|
15805161 |
2005 |
|
rs200179145
|
|
T |
0.800 |
GeneticVariation |
CLINVAR |
Algorithm for efficient PKHD1 mutation screening in autosomal recessive polycystic kidney disease (ARPKD).
|
15706593 |
2005 |
|
rs200179145
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
Algorithm for efficient PKHD1 mutation screening in autosomal recessive polycystic kidney disease (ARPKD).
|
15706593 |
2005 |
|
rs200179145
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
Comprehensive genomic analysis of PKHD1 mutations in ARPKD cohorts.
|
15805161 |
2005 |
|
rs200179145
|
|
T |
0.800 |
CausalMutation |
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 consequences of PKHD1 mutations in 164 patients with autosomal-recessive polycystic kidney disease (ARPKD).
|
15698423 |
2005 |
|
rs200179145
|
|
T |
0.800 |
GeneticVariation |
CLINVAR |
PKHD1 mutations in autosomal recessive polycystic kidney disease (ARPKD).
|
15108277 |
2004 |
|
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 |
Milder presentation of recessive polycystic kidney disease requires presence of amino acid substitution mutations.
|
12874454 |
2003 |
|
rs200179145
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
Spectrum of mutations in the gene for autosomal recessive polycystic kidney disease (ARPKD/PKHD1).
|
12506140 |
2003 |
|
rs200179145
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
The gene mutated in autosomal recessive polycystic kidney disease encodes a large, receptor-like protein.
|
11919560 |
2002 |
|
rs200179145
|
|
T |
0.800 |
GeneticVariation |
CLINVAR |
The gene mutated in autosomal recessive polycystic kidney disease encodes a large, receptor-like protein.
|
11919560 |
2002 |