Varaico: Literature-Extracted Genetic Variants

Gene:NPHS1
Variant:p.A597D
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NPHS1

NM_004646.4:p.A597D

Associated Papers

Whole genome sequencing identifies monogenic disease in 56.1% of families with early-onset steroid-resistant nephrotic syndrome.

Soliman NA et al.

Human Genetics, 2025

40402239 (PubMed )
Supplement: 439_2025_2752_MOESM1_ESM.docx

De novo mutations in moderate or severe intellectual disability.

Hamdan FF et al.

Plos Genetics, 2014

25356899 (PubMed )
Supplement: pgen.1004772.s004.xlsx › 143.91
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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."