Varaico: Literature-Extracted Genetic Variants

Gene:MYO5B
Variant:p.R1713Splc
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MYO5B

NM_001080467.3:p.R1713Splc

Associated Papers

Unequal Effects of Myosin 5B Mutations in Liver and Intestine Determine the Clinical Presentation of Low-Gamma-Glutamyltransferase Cholestasis.

van IJzendoorn SCD et al.

Hepatology (baltimore, Md.), 2020

32583448 (PubMed )
Supplement: HEP-72-1461-s001.pdf

MYO5B, STX3, and STXBP2 mutations reveal a common disease mechanism that unifies a subset of congenital diarrheal disorders: A mutation update.

Dhekne HS et al.

Human Mutation, 2018

29266534 (PubMed )
Supplement: HUMU-39-333-s002.docx

[Phenotypic and genetic analysis of a family affected with microvillus inclusion disease].

Mao M et al.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2016

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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."