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Article

Aberrant splicing caused by exonic single nucleotide variants positioned 2nd or 3rd to the last nucleotide in the COL4A5 gene.

Clinical and experimental nephrology - 1 Mar 2023

Okada Eri, Aoto Yuya, Horinouchi Tomoko, Yamamura Tomohiko, Ichikawa Yuta, Tanaka Yu, Ueda Chika, Kitakado Hideaki, Kondo Atsushi, Sakakibara Nana, Suzuki Ryota, Usui Joichi, Yamagata Kunihiro, Iijima Kazumoto, Nozu Kandai

Abstract excerpt

BACKGROUND AND OBJECTIVES: The evident genotype-phenotype correlation shown by the X-linked Alport syndrome warrants the assessment of the impact of identified gene variants on aberrant splicing. We previously reported that single nucleotide variants (SNVs) in the last nucleotide of exons in COL4A5 cause aberrant splicing. It is known that the nucleotides located 2nd and 3rd to the last nucleotides of exons can...

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Identifiers

PMID: 36371577
DOI: 10.1007/s10157-022-02294-x
PMCID: PMC9950164

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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