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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:MLH1

Variant:p.I719ins2

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MLH1

NM_000249.4:p.I719ins2

hg38:chr3:37050537 A>AATGTGT

Associated Papers

Ten novel MSH2 and MLH1 germline mutations in families with HNPCC.

Krüger S et al.

Human Mutation, 2004

15365996 (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."