Varaico: Literature-Extracted Genetic Variants

Gene:RET
Variant:p.D627Splc
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RET

NM_020975.6:p.D627Splc

Associated Papers

Functional analysis of the 5' regulatory region of the 5-aminolevulinate synthase (ALAS1) gene in response to estrogen.

du Plessis N et al.

Cellular and Molecular Biology (noisy-le-grand, France), 2009

A review of genetic mutation in familial Hirschsprung's disease in South Africa: towards genetic counseling.

Moore SW et al.

Journal of Pediatric Surgery, 2008

Novel RET mutations in Hirschsprung's disease patients from the diverse South African population.

Julies MG et al.

European Journal of Human Genetics : Ejhg, 2001

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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."