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Article

[Identification of SDHD c.170-1G>T variant in pedigree affected with carotid body tumor].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Jun 2020

Liu Hong, Zhang Jingqiu, Xu Feng, Liu Hui, Shen Kuiling, Ma Shaogang

Abstract excerpt

OBJECTIVE: To carry out genetic testing for a pedigree affected with carotid body tumor (CBT). METHODS: Members of the pedigree were enrolled and underwent physical examination, ultrasonography and CT scan. Genomic DNA of the proband was extracted from peripheral blood sample and subjected to exome sequencing. Candidate variants were predicted using bioinformatic tools and verified among members from his...

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PMID: 32472550
DOI: 10.3760/cma.j.issn.1003-9406.2020.06.019

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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