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Article

Whole exome sequencing reveal 83 novel Mendelian disorders carrier P/LP variants in Chinese adult patients.

Journal of human genetics - 1 Nov 2023

Zhang Li, Yu Li, Shu Xianhong, Ding Jing, Zhou Jingmin, Zhong Chunjiu, Pan Baishen, Guo Wei, Zhang Chunyan, Wang Beili

Abstract excerpt

Carrier screening can identify people at risk of conceiving pregnancies affected with inherited genetic disorders or who have a genetic disorder with late or variable onset. Carrier screening based on whole exome sequencing (WES) data can offer more comprehensive assessment than on-target carrier screening tests. A total of 224 Chinese adult patients WES data was analyzed, except positive variants associated with...

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Source

Identifiers

PMID: 37386068
DOI: 10.1038/s10038-023-01179-5

Genes

C6
GJB2

Variants

Provenance

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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