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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PMS2

Variant:p.L47fs

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PMS2

NM_000535.7:p.L47fs

hg38:chr7:6005914 C>CN

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

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