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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ADH7

Variant:p.Y149_T150delFs

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ADH7

NM_000673.7:p.Y149_T150delFs

hg38:chr4:99427886 CTG>C

Associated Papers

Clinical and Genetic Analysis of RDH12-Associated Retinopathy in 27 Chinese Families: A Hypomorphic Allele Leads to Cone-Rod Dystrophy.

Wang J et al.

Investigative Ophthalmology & Visual Science, 2022

35994252 (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."