rs750962965
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
A clinically driven variant prioritization framework outperforms purely computational approaches for the diagnostic analysis of singleton WES data.
|
28832562 |
2017 |
rs750962965
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease.
|
28041643 |
2017 |
rs1280238814
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Gene mutation analysis in Iranian children with nephronophthisis: a two-center study.
|
25851290 |
2015 |
rs727503968
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Targeted Next-Generation Sequencing for Clinical Diagnosis of 561 Mendelian Diseases.
|
26274329 |
2015 |
rs750962965
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Identity-by-descent-guided mutation analysis and exome sequencing in consanguineous families reveals unusual clinical and molecular findings in retinal dystrophy.
|
24625443 |
2014 |
rs727503968
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Clinical features and mutation of NPHP5 in two Chinese siblings with Senior-Løken syndrome.
|
24674142 |
2013 |
rs750962965
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Pathogenic NPHP5 mutations impair protein interaction with Cep290, a prerequisite for ciliogenesis.
|
23446637 |
2013 |
rs750962965
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
High-throughput mutation analysis in patients with a nephronophthisis-associated ciliopathy applying multiplexed barcoded array-based PCR amplification and next-generation sequencing.
|
23188109 |
2012 |
rs1280238814
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
IQCB1 mutations in patients with leber congenital amaurosis.
|
20881296 |
2011 |
rs750962965
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Genotype-phenotype correlation in 440 patients with NPHP-related ciliopathies.
|
21866095 |
2011 |
rs750962965
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
IQCB1 mutations in patients with leber congenital amaurosis.
|
20881296 |
2011 |
rs727503968
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies.
|
19430481 |
2009 |
rs750962965
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulin.
|
15723066 |
2005 |
rs121918244
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs373909351
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs387907009
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs745340459
|
|
TCAAG |
0.700 |
CausalMutation |
CLINVAR |
|
|
|