Varaico: Literature-Extracted Genetic Variants

Gene:ST14
Variant:p.Q163R
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ST14

NM_021978.4:p.Q163R

Associated Papers

A novel SPINT2 missense mutation causes syndromic congenital sodium diarrhea.

Zhang XX et al.

World Journal of Pediatrics : Wjp, 2022

Tufting Enteropathy: A Review of Clinical and Histological Presentation, Etiology, Management, and Outcome.

Cai C et al.

Gastroenterology Research and Practice, 2020

De novo mutations in moderate or severe intellectual disability.

Hamdan FF et al.

Plos Genetics, 2014

25356899 (PubMed )
Supplement: pgen.1004772.s004.xlsx › 670.267
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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."