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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:MYO5B

Variant:p.L1407L

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MYO5B

NM_001080467.3:p.L1407L

hg38:chr18:49853449 C>T

Associated Papers

Splicing Analysis of MYO5B Noncanonical Variants in Patients with Low Gamma-Glutamyltransferase Cholestasis.

Wang L et al.

Human Mutation, 2023

40225142 (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."