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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:MYO5B

Variant:p.F453L

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MYO5B

NM_001080467.3:p.F453L

hg38:chr18:49962994 G>T

Associated Papers

Expanding the spectrum of progressive familial intrahepatic cholestasis: A report of 3 cases.

Jiao J et al.

American Journal of Clinical Pathology, 2025

39333837 (PubMed )

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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."