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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PMS2

Variant:p.N612_V615del4

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PMS2

NM_000535.7:p.N612_V615del4

hg38:chr7:5986919 CAACTTTCTTATT>C

Associated Papers

Germline MBD4 deficiency causes a multi-tumor predisposition syndrome.

Palles C et al.

American Journal of Human Genetics, 2022

35460607 (PubMed )

Supplement: mmc3.pdf

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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."