Varaico: Literature-Extracted Genetic Variants

Gene:NPHS2
Variant:p.M115I
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NPHS2

NM_014625.4:p.M115I

Associated Papers

A Rare NPHS2 Mutation (E130K) in Hereditary Steroid-Resistant Nephrotic Syndrome: A Case Report.

Mujahed RH et al.

Case Reports in Nephrology, 2026

Mutations of a country: a mutation review of single gene disorders in the United Arab Emirates (UAE).

Al-Gazali L et al.

Human Mutation, 2010

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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."