Varaico: Literature-Extracted Genetic Variants

Gene:RET
Variant:p.R180*
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RET

NM_020975.6:p.R180*

Associated Papers

Clinicopathological, immunohistochemical and molecular features of acinic cell carcinoma of the breast.

Yang X et al.

Oncology Letters, 2024

An integrative pan cancer analysis of RET aberrations and their potential clinical implications.

Zhou L et al.

Scientific Reports, 2022

35978072 (PubMed )
Supplement: 41598_2022_17791_MOESM3_ESM.xlsx › table

Whole-exome sequencing of non-BRCA1/BRCA2 mutation carrier cases at high-risk for hereditary breast/ovarian cancer.

Felicio PS et al.

Human Mutation, 2021

Sequence characterization of RET in 117 Chinese Hirschsprung disease families identifies a large burden of de novo and parental mosaic mutations.

Jiang Q et al.

Orphanet Journal of Rare Diseases, 2019

RET mutational spectrum in Hirschsprung disease: evaluation of 601 Chinese patients.

So MT et al.

Plos One, 2011

[Molecular biology, basic research and diagnosis of Hirschsprung's disease].

Martucciello G et al.

Der Pathologe, 2007

Segregation at three loci explains familial and population risk in Hirschsprung disease.

Gabriel SB et al.

Nature Genetics, 2002

Japanese patients with sporadic Hirschsprung: mutation analysis of the receptor tyrosine kinase proto-oncogene, endothelin-B receptor, endothelin-3, glial cell line-derived neurotrophic factor and neurturin genes: a comparison with similar studies.

Sakai T et al.

European Journal of Pediatrics, 2000

Mutations of the RET proto-oncogene in the multiple endocrine neoplasia type 2 syndromes, related sporadic tumours, and hirschsprung disease.

Eng C et al.

Human Mutation, 1997

RET mutations in multiple endocrine neoplasia type 2 and Hirschsprung disease.

Reynolds LF et al.

Current Opinion in Pediatrics, 1995

Diversity of RET proto-oncogene mutations in familial and sporadic Hirschsprung disease.

Attié T et al.

Human Molecular Genetics, 1995

Long segment and short segment familial Hirschsprung's disease: variable clinical expression at the RET locus.

Edery P et al.

Journal of Medical Genetics, 1994

[Mutations of RET proto-oncogene in Hirschsprung disease].

Lyonnet S et al.

Comptes Rendus De L'academie Des Sciences. Serie Iii, Sciences De La Vie, 1994

[Identification of mutation of RET proto-oncogene in Hirschsprung disease].

Attié T et al.

Comptes Rendus Des Seances De La Societe De Biologie Et De Ses Filiales, 1994

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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."