Publications:

Lynch syndrome mutation spectrum in New South Wales, Australia, including 55 novel mutations.

Molecular Genetics & Genomic Medicine

Sjursen, Wenche W; McPhillips, Mary M; Scott, Rodney J RJ; Talseth-Palmer, Bente A BA

Publication Date: 2016-03

Variant appearance in text: MLH1: 2114delC; Pro705Leufs*78

PubMed Link: 27064304

Variant Present in the following documents:

• Main text
• MGG3-4-223.pdf

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Mixed lineage kinase 3 gene mutations in mismatch repair deficient gastrointestinal tumours.

Human Molecular Genetics

Velho, Sérgia S; Oliveira, Carla C; Paredes, Joana J; Sousa, Sónia S; Leite, Marina M; Matos, Paulo P; Milanezi, Fernanda F; Ribeiro, Ana Sofia AS; Mendes, Nuno N; Licastro, Danilo D; Karhu, Auli A; Oliveira, Maria José MJ; Ligtenberg, Marjolijn M; Hamelin, Richard R; Carneiro, Fátima F; Lindblom, Annika A; Peltomaki, Paivi P; Castedo, Sérgio S; Schwartz, Simó S; Jordan, Peter P; Aaltonen, Lauri A LA; Hofstra, Robert M W RM; Suriano, Gianpaolo G; Stupka, Elia E; Fialho, Arsenio M AM; Seruca, Raquel R

Publication Date: 2010-02-15

Variant appearance in text: MLH1: 2114delC

PubMed Link: 19955118

Variant Present in the following documents:

• Main text

View BVdb publication page