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: 1046dupT; Pro350Thrfs

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 7

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Sources of discordance among germ-line variant classifications in ClinVar.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S

Publication Date: 2017-10

Variant appearance in text: MLH1: 1046dupT; Pro350Thrfs

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

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A procedure for the detection of linkage with high density SNP arrays in a large pedigree with colorectal cancer.

Bmc Cancer

Middeldorp, Anneke A; Jagmohan-Changur, Shantie S; Helmer, Quinta Q; van der Klift, Heleen M HM; Tops, Carli M J CM; Vasen, Hans F A HF; Devilee, Peter P; Morreau, Hans H; Houwing-Duistermaat, Jeanine J JJ; Wijnen, Juul T JT; van Wezel, Tom T

Publication Date: 2007-01-12

Variant appearance in text: MLH1: 1046dupT; Pro350fs

PubMed Link: 17222328

Variant Present in the following documents:

• Main text
• 1471-2407-7-6.pdf

View BVdb publication page