Varaico: Literature-Extracted Genetic Variants

Gene:MYO5B
Variant:p.Q1467*
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MYO5B

NM_001080467.3:p.Q1467*

Associated Papers

Fetal Bowel Abnormalities Suspected by Ultrasonography in Microvillus Inclusion Disease: Prevalence and Clinical Significance.

Sun Y et al.

Journal of Clinical Medicine, 2022

35893420 (PubMed )
Supplement: jcm-11-04331-s001.zip › jcm-1723661-supplementary.pdf

Congenital Diarrhea and Cholestatic Liver Disease: Phenotypic Spectrum Associated with MYO5B Mutations.

Aldrian D et al.

Journal of Clinical Medicine, 2021

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

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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."