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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ABHD12

Variant:p.V106Splc

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ABHD12

NM_001042472.3:p.V106Splc

hg38:chr20:25339222 C>T

Associated Papers

Atypical and ultra-rare Usher syndrome: a review.

Nolen RM et al.

Ophthalmic Genetics, 2020

32372680 (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."