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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:OSBPL2

Variant:p.H60fs

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OSBPL2

NM_144498.4:p.H60fs

hg38:chr20:62260121 C>CN

Associated Papers

OSBPL2 mutations impair autophagy and lead to hearing loss, potentially remedied by rapamycin.

Koh YI et al.

Autophagy, 2022

35253614 (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."