Varaico: Literature-Extracted Genetic Variants

Gene:RET
Variant:p.V778D
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RET

NM_020975.6:p.V778D

Associated Papers

RET and EDNRB mutation screening in patients with Hirschsprung disease: Functional studies and its implications for genetic counseling.

Widowati T et al.

European Journal of Human Genetics : Ejhg, 2016

Correlation between multiple RET mutations and severity of Hirschsprung's disease.

Ishii K et al.

Pediatric Surgery International, 2013

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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."