Varaico: Literature-Extracted Genetic Variants

Gene:MYO5B
Variant:p.G316R
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MYO5B

NM_001080467.3:p.G316R

Associated Papers

Molecular diagnosis of childhood immune dysregulation, polyendocrinopathy, and enteropathy, and implications for clinical management.

Baxter SK et al.

The Journal of Allergy and Clinical Immunology, 2022

Two cases of microvillous inclusion disease caused by novel mutations in MYO5B gene.

Comegna M et al.

Clinical Case Reports, 2018

An overview and online registry of microvillus inclusion disease patients and their MYO5B mutations.

van der Velde KJ et al.

Human Mutation, 2013

Functional characterization of mutations in the myosin Vb gene associated with microvillus inclusion disease.

Szperl AM et al.

Journal of Pediatric Gastroenterology and Nutrition, 2011

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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."