Varaico: Literature-Extracted Genetic Variants

Gene:RET
Variant:p.S649S
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RET

NM_020975.6:p.S649S

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

Estimated global prevalence of genetic carriers of hereditary pheochromocytoma-paraganglioma syndrome in a large multiethnic genomic database.

Charoenngam N et al.

European Journal of Endocrinology, 2025

40974092 (PubMed )
Supplement: lvaf191_supplementary_data.docx

Functional Studies on Novel RET Mutations and Their Implications for Genetic Counseling for Hirschsprung Disease.

Wang H et al.

Frontiers in Genetics, 2019

MutPred Splice: machine learning-based prediction of exonic variants that disrupt splicing.

Mort M et al.

Genome Biology, 2014

24451234 (PubMed )
Supplement: gb-2014-15-1-r19-S1.pdf

Double heterozygosity for a RET substitution interfering with splicing and an EDNRB missense mutation in Hirschsprung disease.

Auricchio A et al.

American Journal of Human Genetics, 1999

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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."