Varaico: Literature-Extracted Genetic Variants

Gene:NPHP4
Variant:p.P1152S
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NPHP4

NM_015102.5:p.P1152S

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 › HLMS08_het

Mutation profile of Bardet-Biedl syndrome patients from India: Implicative role of multiallelic rare variants and oligogenic inheritance pattern.

Gnanasekaran H et al.

Clinical Genetics, 2023

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