Varaico: Literature-Extracted Genetic Variants

Gene:NPHP3
Variant:p.R397H
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NPHP3

NM_153240.5:p.R397H

Associated Papers

Classification of domains in predicted structures of the human proteome.

Schaeffer RD et al.

Proceedings of the National Academy of Sciences of the United States of America, 2023

36917664 (PubMed )
Supplement: pnas.2214069120.sd02.xlsx › Dataset_S2

A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies.

Khanna H et al.

Nature Genetics, 2009

Mutations in a novel gene, NPHP3, cause adolescent nephronophthisis, tapeto-retinal degeneration and hepatic fibrosis.

Olbrich H et al.

Nature Genetics, 2003

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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."