Varaico: Literature-Extracted Genetic Variants

Gene:RET
Variant:p.C609W
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RET

NM_020975.6:p.C609W

Associated Papers

RET Gene Alterations in Clinical Practice: A Comprehensive Review and Database Update.

Ricciardi Tenore C et al.

Genes, 2025

41465145 (PubMed )
Supplement: genes-16-01472-s001.zip › genes-3934011-supplementary.pdf

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

The importance of the RET gene in thyroid cancer and therapeutic implications.

Salvatore D et al.

Nature Reviews. Endocrinology, 2021

Long-term outcome after DNA-based prophylactic neck surgery in children at risk of hereditary medullary thyroid cancer.

Machens A et al.

Best Practice & Research. Clinical Endocrinology & Metabolism, 2019

Nationwide French Study of RET Variants Detected from 2003 to 2013 Suggests a Possible Influence of Polymorphisms as Modifiers.

Lebeault M et al.

Thyroid : Official Journal of the American Thyroid Association, 2017

28946813 (PubMed )
Supplement: sj-pdf-1-thy-10.1089_thy.2016.0399.pdf

Consensus: a framework for evaluation of uncertain gene variants in laboratory test reporting.

Crockett DK et al.

Genome Medicine, 2012

22640420 (PubMed )
Supplement: gm347-S2.DOC

Multiple endocrine neoplasia type 2 RET protooncogene database: repository of MEN2-associated RET sequence variation and reference for genotype/phenotype correlations.

Margraf RL et al.

Human Mutation, 2009

Hirschsprung disease, associated syndromes and genetics: a review.

Amiel J et al.

Journal of Medical Genetics, 2008

RET proto-oncogene genotyping using unlabeled probes, the masking technique, and amplicon high-resolution melting analysis.

Margraf RL et al.

The Journal of Molecular Diagnostics : Jmd, 2007

A novel Czech kindred with familial medullary thyroid carcinoma and Hirschsprung's disease.

Dvoráková S et al.

Journal of Pediatric Surgery, 2005

The pathogenesis of Hirschsprung disease.

Belknap WM

Current Opinion in Gastroenterology, 2002

Hirschsprung disease, associated syndromes, and genetics: a review.

Amiel J et al.

Journal of Medical Genetics, 2001

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

Bordeaux MC et al.

The Embo Journal, 2000

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

A novel 9-base pair duplication in RET exon 8 in familial medullary thyroid carcinoma.

Pigny P et al.

The Journal of Clinical Endocrinology and Metabolism, 1999

Co-segregation of MEN2 and Hirschsprung's disease: the same mutation of RET with both gain and loss-of-function?

Takahashi M et al.

Human Mutation, 1999

Oncological implications of RET gene mutations in Hirschsprung's disease.

Sijmons RH et al.

Gut, 1998

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

Pelet A et al.

The Journal of Clinical Investigation, 1998

Hirschsprung disease in MEN 2A: increased spectrum of RET exon 10 genotypes and strong genotype-phenotype correlation.

Decker RA et al.

Human Molecular Genetics, 1998

Biological properties of Ret with cysteine mutations correlate with multiple endocrine neoplasia type 2A, familial medullary thyroid carcinoma, and Hirschsprung's disease phenotype.

Ito S et al.

Cancer Research, 1997

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

Diverse phenotypes associated with exon 10 mutations of the RET proto-oncogene.

Mulligan LM et al.

Human Molecular Genetics, 1994

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