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[Analysis of the results for genetic disease screening among 1 000 newborns from Huzhou].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 May 2024

Shen Guosong, Zou Lin, Li Wenwen, Tang Kefeng, Zhang Yaqin, Ding Zhongying, Shen Xueping

Abstract excerpt

OBJECTIVE: To analyze the types and distribution of pathogenic variants for neonatal genetic diseases in Huzhou, Zhejiang Province. METHODS: One thousand neonates (48 ~ 42 h after birth) born to Huzhou region were selected as the study subjects. Dry blood spot samples were collected from the newborns, and targeted capture high-throughput sequencing was carried out for pathogenic genes underlying 542 inherited...

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PMID: 38684299
DOI: 10.3760/cma.j.cn511374-20230703-00407

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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