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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:MLH1

Variant:p.H264Splc

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MLH1

NM_000249.4:p.H264Splc

hg38:chr3:37014550 T>G

Associated Papers

Unexplained mismatch repair deficiency: Case closed.

Eikenboom EL et al.

Hgg Advances, 2023

36624813 (PubMed )

Supplement: mmc1.pdf

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