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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:NPHS2

Variant:p.R286delFs

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NPHS2

NM_014625.4:p.R286delFs

hg38:chr1:179552617 GTC>G

Associated Papers

iPSC line DHMCi019-A is generated from a patient with hereditary nephrotic syndrome harboring compound heterozygous NPHS2 variants.

Tabatabaeifar M et al.

Stem Cell Research, 2025

40961566 (PubMed )

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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."