Varaico: Literature-Extracted Genetic Variants

Gene:RET
Variant:p.S457L
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RET

NM_020975.6:p.S457L

Associated Papers

Localizing a putative mutation as the major contributor to the development of sporadic Hirschsprung disease to the RET genomic sequence between the promoter region and exon 2.

Burzynski GM et al.

European Journal of Human Genetics : Ejhg, 2004

Intronic single nucleotide polymorphisms in the RET protooncogene are associated with a subset of apparently sporadic pheochromocytoma and may modulate age of onset.

McWhinney SR et al.

The Journal of Clinical Endocrinology and Metabolism, 2003

A founding locus within the RET proto-oncogene may account for a large proportion of apparently sporadic Hirschsprung disease and a subset of cases of sporadic medullary thyroid carcinoma.

Borrego S et al.

American Journal of Human Genetics, 2003

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