Varaico: Literature-Extracted Genetic Variants

Gene:RET
Variant:p.P1039L
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RET

NM_020975.6:p.P1039L

Associated Papers

Novel and recurrent genetic variants of VHL, SDHB, and RET genes in Chinese pheochromocytoma and paraganglioma patients.

Li C et al.

Frontiers in Genetics, 2023

36936415 (PubMed )
Supplement: Table2.XLSX › RET

Comprehensive Assessment of Indian Variations in the Druggable Kinome Landscape Highlights Distinct Insights at the Sequence, Structure and Pharmacogenomic Stratum.

Panda G et al.

Frontiers in Pharmacology, 2022

35865963 (PubMed )
Supplement: Table12.xlsx › Sheet1

Mutations in Disordered Regions Can Cause Disease by Creating Dileucine Motifs.

Meyer K et al.

Cell, 2018

PHOX2B polyalanine repeat length is associated with sudden infant death syndrome and unclassified sudden infant death in the Dutch population.

Liebrechts-Akkerman G et al.

International Journal of Legal Medicine, 2014

Mutations of the RET gene in isolated and syndromic Hirschsprung's disease in human disclose major and modifier alleles at a single locus.

de Pontual L et al.

Journal of Medical Genetics, 2006

Association of germline mutations and polymorphisms of the RET proto-oncogene with idiopathic congenital central hypoventilation syndrome in 33 patients.

Fitze G et al.

Journal of Medical Genetics, 2003

The pathogenesis of Hirschsprung disease.

Belknap WM

Current Opinion in Gastroenterology, 2002

The RET proto-oncogene induces apoptosis: a novel mechanism for Hirschsprung disease.

Bordeaux MC et al.

The Embo Journal, 2000

Various mechanisms cause RET-mediated signaling defects in Hirschsprung's disease.

Pelet A et al.

The Journal of Clinical Investigation, 1998

Mutations of the RET-GDNF signaling pathway in Ondine's curse.

Amiel J et al.

American Journal of Human Genetics, 1998

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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."