Varaico: Literature-Extracted Genetic Variants

Gene:GDNF
Variant:p.P21S
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GDNF

NM_000514.4:p.P21S

Associated Papers

Cardiac arrhythmia and neuroexcitability gene variants in resected brain tissue from patients with sudden unexpected death in epilepsy (SUDEP).

Friedman D et al.

Npj Genomic Medicine, 2018

29619247 (PubMed )
Supplement: 41525_2018_48_MOESM2_ESM.xlsx › Sheet1

Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.

Ryu GM et al.

Nucleic Acids Research, 2009

19139070 (PubMed )
Supplement: gkn1008_nar-01723-s-2008-File009.xls › TypeII_

Hirschsprung associated GDNF mutations do not prevent RET activation.

Borghini S et al.

European Journal of Human Genetics : Ejhg, 2002

[Molecular genetics of Hirschsprung disease: a model of multigenic neurocristopathy].

Amiel J et al.

Journal De La Societe De Biologie, 2000

Germline mutations of the RET ligand GDNF are not sufficient to cause Hirschsprung disease.

Salomon R et al.

Nature Genetics, 1996

[Genetics of Hirschsprung disease].

Attié T et al.

Annales De Chirurgie, 1996

[Genetics of Hirschsprung disease].

Attié T et al.

Comptes Rendus Des Seances De La Societe De Biologie Et De Ses Filiales, 1996

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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."