Varaico: Literature-Extracted Genetic Variants

Gene:RAPGEF5
Variant:p.L65V
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RAPGEF5

NM_012294.5:p.L65V

Associated Papers

Over-representation of a germline variant in the gene encoding RET co-receptor GFRalpha-1 but not GFRalpha-2 or GFRalpha-3 in cases with sporadic medullary thyroid carcinoma.

Gimm O et al.

Oncogene, 2001

Investigation of germline GFR alpha-1 mutations in Hirschsprung disease.

Myers SM et al.

Journal of Medical Genetics, 1999

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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."