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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SPINT2

Variant:p.Y129C

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SPINT2

NM_021102.4:p.Y129C

hg38:chr19:38289186 A>G

Associated Papers

A novel SPINT2 missense mutation causes syndromic congenital sodium diarrhea.

Zhang XX et al.

World Journal of Pediatrics : Wjp, 2022

36123503 (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."