Varaico: Literature-Extracted Genetic Variants

Gene:NPHS1
Variant:p.L382L
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NPHS1

NM_004646.4:p.L382L

Associated Papers

Mutations in the Wilms' tumor 1 gene cause isolated steroid resistant nephrotic syndrome and occur in exons 8 and 9.

Mucha B et al.

Pediatric Research, 2006

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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."