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Article

Identification of novel single-nucleotide variants altering RNA splicing of PKD1 and PKD2.

Journal of human genetics - 1 Jan 2022

Xie Shengyu, Leng Xiangyou, Tao Dachang, Zhang Yangwei, Wang Zhaokun, Zhang Xinyue, He Tianrong, Tan Xiaolan, Liu Yunqiang, Yang Yuan

Abstract excerpt

The development of sequencing techniques identified numerous genetic variants, and accurate evaluation of the clinical significance of these variants facilitates the diagnosis of Mendelian diseases. In the present study, 549 rare single- nucleotide variants of uncertain significance were extracted from the ADPKD and ClinVar databases. MaxEntScan scoresplice is an in silico splicing prediction tool that was used...

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PMID: 34257392
DOI: 10.1038/s10038-021-00959-1

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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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