Varaico: Literature-Extracted Genetic Variants

Gene:JADE3
Variant:p.R137C
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JADE3

NM_014735.5:p.R137C

Associated Papers

A complementary study approach unravels novel players in the pathoetiology of Hirschsprung disease.

Mederer T et al.

Plos Genetics, 2020

33151932 (PubMed )
Supplement: pgen.1009106.s003.pdf
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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."