Varaico: Literature-Extracted Genetic Variants

Gene:APC
Variant:p.S350S
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APC

NM_000038.6:p.S350S

Associated Papers

Large-scale application of ClinGen-InSiGHT APC-specific ACMG/AMP variant classification criteria leads to substantial reduction in VUS.

Yin X et al.

American Journal of Human Genetics, 2024

39357517 (PubMed )
Supplement: mmc2.xlsx › e_Cli-data

Single nucleotide polymorphisms of the APC gene and colorectal cancer risk: a case-control study in Taiwan.

Chen SP et al.

Bmc Cancer, 2006

Incidence and predictive value of congenital hypertrophy of retinal pigment epithelium in Chinese familial adenomatous polyposis patients.

Lam DS et al.

Chinese Medical Journal, 1998

Congenital hypertrophy of the retinal pigment epithelium and APC mutations in Chinese with familial adenomatous polyposis.

Pang CP et al.

Ophthalmologica. Journal International D'ophtalmologie. International Journal of Ophthalmology. Zeitschrift Fur Augenheilkunde, 0

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."