rs369925690
|
|
|
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 |
rs369925690
|
|
C |
0.800 |
CausalMutation |
CLINVAR |
Comprehensive genomic analysis of PKHD1 mutations in ARPKD cohorts.
|
15805161 |
2005 |
rs369925690
|
|
C |
0.800 |
CausalMutation |
CLINVAR |
Genotype-phenotype correlations in fetuses and neonates with autosomal recessive polycystic kidney disease.
|
19940839 |
2010 |
rs369925690
|
|
C |
0.800 |
CausalMutation |
CLINVAR |
PKHD1 sequence variations in 78 children and adults with autosomal recessive polycystic kidney disease and congenital hepatic fibrosis.
|
19914852 |
2010 |
rs369925690
|
|
C |
0.800 |
CausalMutation |
CLINVAR |
A labor and cost effective next generation sequencing of PKHD1 in autosomal recessive polycystic kidney disease patients.
|
25701400 |
2015 |
rs369925690
|
|
C |
0.800 |
CausalMutation |
CLINVAR |
PKHD1, the polycystic kidney and hepatic disease 1 gene, encodes a novel large protein containing multiple immunoglobulin-like plexin-transcription-factor domains and parallel beta-helix 1 repeats.
|
11898128 |
2002 |
rs369925690
|
|
C |
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 |
rs369925690
|
|
C |
0.800 |
CausalMutation |
CLINVAR |
Spectrum of mutations in the gene for autosomal recessive polycystic kidney disease (ARPKD/PKHD1).
|
12506140 |
2003 |
rs369925690
|
|
C |
0.800 |
CausalMutation |
CLINVAR |
Cellular and subcellular localization of the ARPKD protein; fibrocystin is expressed on primary cilia.
|
12925574 |
2003 |
rs369925690
|
|
C |
0.800 |
CausalMutation |
CLINVAR |
Molecular genetic analysis of PKHD1 by next-generation sequencing in Czech families with autosomal recessive polycystic kidney disease.
|
26695994 |
2015 |
rs369925690
|
|
C |
0.800 |
CausalMutation |
CLINVAR |
The gene mutated in autosomal recessive polycystic kidney disease encodes a large, receptor-like protein.
|
11919560 |
2002 |
rs369925690
|
|
C |
0.800 |
CausalMutation |
CLINVAR |
Clinical consequences of PKHD1 mutations in 164 patients with autosomal-recessive polycystic kidney disease (ARPKD).
|
15698423 |
2005 |
rs369925690
|
|
C |
0.800 |
CausalMutation |
CLINVAR |
Combined liver-kidney transplantation for children with autosomal recessive polycystic kidney disease (ARPKD): indication and outcome.
|
23582048 |
2013 |
rs369925690
|
|
C |
0.800 |
CausalMutation |
CLINVAR |
A complete mutation screen of PKHD1 in autosomal-recessive polycystic kidney disease (ARPKD) pedigrees.
|
12846734 |
2003 |