Varaico: Literature-Extracted Genetic Variants

Gene:GDNF
Variant:p.D150N
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GDNF

NM_000514.4:p.D150N

Associated Papers

Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Holehouse AS et al.

Plos One, 2015

26659599 (PubMed )
Supplement: pone.0144692.s002.xlsx › suppTable_2.txt

Hirschsprung associated GDNF mutations do not prevent RET activation.

Borghini S et al.

European Journal of Human Genetics : Ejhg, 2002

Functional characterization of mutations in the GDNF gene of patients with Hirschsprung disease.

Eketjäll S et al.

Human Molecular Genetics, 2002

RET and GDNF gene scanning in Hirschsprung patients using two dual denaturing gel systems.

Hofstra RM et al.

Human Mutation, 2000

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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."