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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:AP1B1

Variant:p.L248I

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AP1B1

NM_001127.4:p.L248I

hg38:chr22:29354846 G>T

Associated Papers

Molecular Basis of Hereditary Hair Diseases.

Shimomura Y

The Keio Journal of Medicine, 2025

37407443 (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."