Varaico: Literature-Extracted Genetic Variants

Gene:SPINT1
Variant:p.G168S
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SPINT1

NM_003710.4:p.G168S

Associated Papers

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

Cai C et al.

Gastroenterology Research and Practice, 2020

SPINT2 (HAI-2) missense variants identified in congenital sodium diarrhea/tufting enteropathy affect the ability of HAI-2 to inhibit prostasin but not matriptase.

Holt-Danborg L et al.

Human Molecular Genetics, 2019

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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."