Varaico: Literature-Extracted Genetic Variants

Gene:PMS2
Variant:p.H845D
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PMS2

NM_000535.7:p.H845D

Associated Papers

PMS2 or PMS2CL? Characterization of variants detected in the 3' of the PMS2 gene.

Bouras A et al.

Genes, Chromosomes & Cancer, 2024

Noncoding Aberrations in Mismatch Repair Genes Underlie a Substantial Part of the Missing Heritability in Lynch Syndrome.

Te Paske IBAW et al.

Gastroenterology, 2022

Resolving inherited and de novo germline predisposing sequence variants by means of whole exome trio analyses in childhood hematological malignancies.

Brozou T et al.

Frontiers in Pediatrics, 2022

TUMOSPEC: A Nation-Wide Study of Hereditary Breast and Ovarian Cancer Families with a Predicted Pathogenic Variant Identified through Multigene Panel Testing.

Lesueur F et al.

Cancers, 2021

34359559 (PubMed )
Supplement: cancers-13-03659-s001.zip › cancers-1273124-supplementary.pdf

Evaluation of yield and experiences of age-related molecular investigation for heritable and nonheritable causes of mismatch repair deficient colorectal cancer to identify Lynch syndrome.

Vos JR et al.

International Journal of Cancer, 2020

32510614 (PubMed )
Supplement: IJC-147-2150-s001.pdf

Characterisation of heterozygous PMS2 variants in French patients with Lynch syndrome.

Wang Q et al.

Journal of Medical Genetics, 2020

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