Varaico: Literature-Extracted Genetic Variants

Gene:PMS2
Variant:p.G466fs
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PMS2

NM_000535.7:p.G466fs

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

Characterizing Mutational Signatures in Human Cancer Cell Lines Reveals Episodic APOBEC Mutagenesis.

Petljak M et al.

Cell, 2019

30849372 (PubMed )
Supplement: mmc4.xlsx › Coding_mutations
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