Varaico: Literature-Extracted Genetic Variants

Gene:ELP1
Variant:p.Q426_V427insFs
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ELP1

NM_003640.5:p.Q426_V427insFs

Associated Papers

Results of the College of American Pathology/American College of Medical Genetics and Genomics external proficiency testing from 2006 to 2013 for three conditions prevalent in the Ashkenazi Jewish population.

Feldman GL et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2014

Experience with carrier screening and prenatal diagnosis for 16 Ashkenazi Jewish genetic diseases.

Scott SA et al.

Human Mutation, 2010

Familial dysautonomia: detection of the IKBKAP IVS20(+6T --> C) and R696P mutations and frequencies among Ashkenazi Jews.

Dong J et al.

American Journal of Medical Genetics, 2002

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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."