Varaico: Literature-Extracted Genetic Variants

Gene:MSH6
Variant:p.C1129_V1130del1
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MSH6

NM_000179.3:p.C1129_V1130del1

Associated Papers

Association of MSH6 mutation with glioma susceptibility, drug resistance and progression.

Xie C et al.

Molecular and Clinical Oncology, 2016

The gastrointestinal phenotype of germline biallelic mismatch repair gene mutations.

Durno CA et al.

The American Journal of Gastroenterology, 2010

Compound heterozygosity for two MSH6 mutations in a patient with early onset colorectal cancer, vitiligo and systemic lupus erythematosus.

Rahner N et al.

American Journal of Medical Genetics. Part A, 2008

Neurofibromatosis von Recklinghausen type I phenotype and early onset of cancers in siblings compound heterozygous for mutations in MSH6.

Ostergaard JR et al.

American Journal of Medical Genetics. Part A, 2005

Syndrome of early onset colon cancers, hematologic malignancies & features of neurofibromatosis in HNPCC families with homozygous mismatch repair gene mutations.

Bandipalliam P

Familial Cancer, 2005

A homozygous MSH6 mutation in a child with café-au-lait spots, oligodendroglioma and rectal cancer.

Menko FH et al.

Familial Cancer, 2004

[Features of the familial form of neurofibromatosis and the early diagnosis of the disease in children].

Badalian LO et al.

Pediatriia, 1972

Constitutional mismatch repair deficiency-associated brain tumors: report from the European C4CMMRD consortium.

Guerrini-Rousseau L et al.

Neuro-oncology Advances, 0

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."