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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:BCOR

Variant:p.D1155delFs

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BCOR

NM_001123385.2:p.D1155delFs

hg38:chrX:40064374 TC>T

Associated Papers

A rare genotype of biallelic mosaic variants in BCOR gene causing a bilateral ocular anterior segment dysgenesis and cataracts.

Mezad-Koursh D et al.

European Journal of Human Genetics : Ejhg, 2023

36261622 (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."