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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:NPHS1

Variant:p.D758V

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NPHS1

NM_004646.4:p.D758V

hg38:chr19:35843533 T>A

Associated Papers

Recessive variants in MYO1C as a potential novel cause of proteinuric kidney disease.

Elmubarak I et al.

Pediatric Nephrology (berlin, Germany), 2024

38904753 (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."