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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:MYO5B

Variant:p.Q452R

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MYO5B

NM_001080467.3:p.Q452R

hg38:chr18:49962998 T>C

Associated Papers

Clinical and Genetic Spectra of Progressive Familial Intrahepatic Cholestasis With Normal GGT: 31 Pediatric Patients and 16 Novel Variants.

Elkoofy NM et al.

Clinical Genetics, 2026

40537152 (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."