Varaico: Literature-Extracted Genetic Variants

Gene:PMS2
Variant:p.S669Splc
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PMS2

NM_000535.7:p.S669Splc

Associated Papers

PMS2CL interference leading to erroneous identification of a pathogenic PMS2 variant in Black patients.

Cappadocia J et al.

Genetics in Medicine Open, 2024

39669620 (PubMed )
Supplement: mmc1.pdf

Prevalence and Genotype-Phenotype Correlation of Lynch Syndrome in a Selected High-Risk Cohort from Qatar's Population.

Sidenna M et al.

Genes, 2022

36421850 (PubMed )
Supplement: genes-13-02176-s001.zip › Table_S1.pdf
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