Articles with "variant 201delc" as a keyword



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Multiple endocrine neoplasia type 1: a new germline “homozygous” variant (c.201delC) caused by detection errors

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Published in 2022 at "Hereditary Cancer in Clinical Practice"

DOI: 10.1186/s13053-022-00216-2

Abstract: Background Multiple endocrine neoplasia type 1 (MEN1) is a hereditary cancer syndrome caused by germline variants in the MEN1 gene located on chromosome 11q13. We found a Chinese woman who had a pancreatic tumor, parathyroid… read more here.

Keywords: multiple endocrine; germline; detection; neoplasia type ... See more keywords