Varaico: Literature-Extracted Genetic Variants

Gene:PSEN2
Variant:p.G74S
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PSEN2

NM_000447.3:p.G74S

Associated Papers

Gene-specific ACMG/AMP classification criteria for germline APC variants: Recommendations from the ClinGen InSiGHT Hereditary Colorectal Cancer/Polyposis Variant Curation Expert Panel.

Spier I et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2024

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