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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:POLD1

Variant:p.M612_N615del4

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POLD1

NM_002691.4:p.M612_N615del4

hg38:chr19:50408842 GATGGCCCACAAC>G

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."