Varaico: Literature-Extracted Genetic Variants

Gene:NPHP4
Variant:p.P677S
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NPHP4

NM_015102.5:p.P677S

Associated Papers

Genetic investigations on singleton school aged children reveal novel variants and new candidate genes for hearing loss.

Khan H et al.

Scientific Reports, 2024

39271758 (PubMed )
Supplement: 41598_2024_71407_MOESM1_ESM.xlsx › HPK7_het

Whole-Exome Sequencing Reveals a Rare Variant of OTOF Gene Causing Congenital Non-syndromic Hearing Loss Among Large Muslim Families Favoring Consanguinity.

Fareed M et al.

Frontiers in Genetics, 2021

34113375 (PubMed )
Supplement: Data_Sheet_1.pdf

Diagnostic yield of panel-based genetic testing in syndromic inherited retinal disease.

Jiman OA et al.

European Journal of Human Genetics : Ejhg, 2020

31836858 (PubMed )
Supplement: 41431_2019_548_MOESM1_ESM.docx
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."