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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:BLM

Variant:p.Y736_T738Fs

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BLM

NM_000057.4:p.Y736_T738Fs

hg38:chr15:90766923 ATCTGA>TAGAT

Associated Papers

Experience with carrier screening and prenatal diagnosis for 16 Ashkenazi Jewish genetic diseases.

Scott SA et al.

Human Mutation, 2010

20672374 (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."