Article

Multiple Endocrine Neoplasia Type 2 (MEN2) and RET Specific Modifications of the ACMG/AMP Variant Classification Guidelines and Impact on the MEN2 RET Database

2022-04-21

Abstract excerpt

The Multiple Endocrine Neoplasia type 2 (MEN2) RET proto-oncogene database, originally published in 2008, is a comprehensive repository of all publicly available RET gene variations associated with MEN2 syndromes. The variant-specific genotype/phenotype information, age of earliest reported medullary thyroid carcinoma onset, and relevant references with a brief summary of findings are cataloged. The ACMG/AMP 201...

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Literature Corpus work: 3cf17b9a-80c6-50d1-a8a4-f1f7eacaec88
DOI: 10.22541/au.165053552.26865967/v1

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