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: 297T>A; F99L; rs267607730

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 8
• 41598_2021_93715_MOESM3_ESM.xlsx, sheet 4

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An integrated DNA and RNA variant detector identifies a highly conserved three base exon in the MAP4K5 kinase locus.

Rna Biology

Kurkowiak, Małgorzata M; Grasso, Giuseppa G; Faktor, Jakub J; Scheiblecker, Lisa L; Winniczuk, Małgorzata M; Mayordomo, Marcos Yebenes MY; O'Neill, J Robert JR; Oster, Bodil B; Vojtesek, Borek B; Al-Saadi, Ali A; Marek-Trzonkowska, Natalia N; Hupp, Ted R TR

Publication Date: 2021-12

Variant appearance in text: MLH1: Phe99Leu

PubMed Link: 34190025

Variant Present in the following documents:

• Main text

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Modulation of microRNA processing by mismatch repair protein MutLα.

Cell Research

Mao, Guogen G; Lee, Sanghee S; Ortega, Janice J; Gu, Liya L; Li, Guo-Min GM

Publication Date: 2012-06

Variant appearance in text: MLH1: F99L

PubMed Link: 22290424

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: MLH1: F99L

PubMed Link: 15475387

Variant Present in the following documents:

• Main text

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