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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:RINT1

Variant:p.D612fs

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RINT1

NM_021930.6:p.D612fs

hg38:chr7:105563895 GAC>N

Associated Papers

Functional analysis of clinical BARD1 germline variants.

Toh MR et al.

Cold Spring Harbor Molecular Case Studies, 2019

31371347 (PubMed )

Supplement: supp_mcs.a004093_Supplemental_Materials.docx

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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."