Varaico: Literature-Extracted Genetic Variants

Gene:ESR2
Variant:p.I316delFs
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ESR2

NM_001437.3:p.I316delFs

Associated Papers

Genotype-phenotype correlations of germline mutations in exon 10 of the RET proto-oncogene from 14 MEN2A families of Ethnic Han Chinese.

Li F et al.

Plos One, 2025

ESR2 Gene and Medullary Thyroid Carcinoma.

Ruiz-Ferrer M et al.

Thyroid : Official Journal of the American Thyroid Association, 2017

Advances and controversies in the management of medullary thyroid carcinoma.

Maia AL et al.

Current Opinion in Oncology, 2017

Germline ESR2 mutation predisposes to medullary thyroid carcinoma and causes up-regulation of RET expression.

Smith J et al.

Human Molecular Genetics, 2016

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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."