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Article

An Effective and Universal Long-Read Sequencing-Based Approach for SMN1 2 + 0 Carrier Screening through Family Trio Analysis.

Clinical chemistry - 2 Nov 2023

Li Shuyuan, Han Xu, Zhang Liang, Xu Yan, Chang Chunxin, Gao Li, Zhan Jiahan, Hua Renyi, Mao Aiping, Wang Yanlin

Abstract excerpt

BACKGROUND: Population-wide carrier screening for spinal muscular atrophy (SMA) is recommended by professional organizations to facilitate informed reproductive options. However, genetic screening for SMN1 2 + 0 carriers, accounting for 3%-8% of all SMA carriers, has been challenging due to the large gene size and long distance between the 2 SMN genes. METHODS: Here we repurposed a previously developed long-read...

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PMID: 37932106
DOI: 10.1093/clinchem/hvad152

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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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