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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PMS2

Variant:p.N314_R315delFs

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PMS2

NM_000535.7:p.N314_R315delFs

hg38:chr7:5992015 GTCGA>G

Associated Papers

Familial uveal melanoma and other tumors in 25 families with monoallelic germline MBD4 variants.

Villy MC et al.

Journal of the National Cancer Institute, 2024

38060262 (PubMed )

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