Varaico: Literature-Extracted Genetic Variants

Gene:ATM
Variant:p.S549N
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ATM

NM_000051.4:p.S549N

Associated Papers

Germline Pathogenic Variants in Homologous Recombination and DNA Repair Genes in an Asian Cohort of Young-Onset Colorectal Cancer.

Toh MR et al.

Jnci Cancer Spectrum, 2018

31360874 (PubMed )
Supplement: pky054_supp.docx

A novel approach to CFTR mutation testing by pyrosequencing-based assay panels adapted to ethnicities.

Bickmann JK et al.

Clinical Chemistry, 2009

The incidence of different cystic fibrosis mutations in the Scottish population: effects on prenatal diagnosis and genetic counselling.

Shrimpton AE et al.

Journal of Medical Genetics, 1991

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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."