Publications:

A computational and structural analysis of germline and somatic variants affecting the DDR mechanism, and their impact on human diseases.

Scientific Reports

Magraner-Pardo, Lorena L; Laskowski, Roman A RA; Pons, Tirso T; Thornton, Janet M JM

Publication Date: 2021-07-12

Variant appearance in text: MLH1: K70N

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 8

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Disruption of an exon splicing enhancer in exon 3 of MLH1 is the cause of HNPCC in a Quebec family.

Journal Of Medical Genetics

McVety, S S; Li, L L; Gordon, P H PH; Chong, G G; Foulkes, W D WD

Publication Date: 2006-02

Variant appearance in text:

PubMed Link: 15923275

Variant Present in the following documents:

• Main text

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Human MutL homolog (MLH1) function in DNA mismatch repair: a prospective screen for missense mutations in the ATPase domain.

Nucleic Acids Research

Ellison, Aaron R AR; Lofing, Joan J; Bitter, Grant A GA

Publication Date: 2004

Variant appearance in text: N/A

PubMed Link: 15475387

Variant Present in the following documents:

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