Varaico: Literature-Extracted Genetic Variants

Gene:PMS2
Variant:p.A390insFs
Back to variants list

PMS2

NM_000535.7:p.A390insFs

Associated Papers

Childhood brain tumours due to germline bi-allelic mismatch repair gene mutations.

Johannesma PC et al.

Clinical Genetics, 2011

The gastrointestinal phenotype of germline biallelic mismatch repair gene mutations.

Durno CA et al.

The American Journal of Gastroenterology, 2010

Constitutional mismatch repair-deficiency syndrome: have we so far seen only the tip of an iceberg?

Wimmer K et al.

Human Genetics, 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

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."