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Article

RT-PCR analysis of mRNA revealed the splice-altering effect of rare intronic variants in monogenic disorders.

Annals of human genetics - 1 Nov 2020

Zhang Xia, Qiu Wenjuan, Liu Huili, Ye Xiantao, Sun Yu, Fan Yanjie, Yu Yongguo

Abstract excerpt

BACKGROUND: Variants perturbing the normal splicing of pre-mRNA can lead to human diseases. The splice-altering effect and eventual consequence on gene function was sometimes uncertain and hinders a definitive molecular diagnosis. METHODS: The impact of four rare intronic variants on splicing was analyzed through reverse transcription - polymerase chain reaction (RT-PCR) analysis of mRNA derived from the...

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Identifiers

PMID: 32776513
DOI: 10.1111/ahg.12400

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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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