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Article

A profile of alternative RNA splicing and transcript variation of CACNA1H, a human T-channel gene candidate for idiopathic generalized epilepsies.

Human molecular genetics - 1 May 2006

Zhong Xiaoli, Liu Jinrong R, Kyle John W, Hanck Dorothy A, Agnew William S

Abstract excerpt

Highly alternatively spliced genes may provide complex targets for disease mutations. Structural changes created by missense mutations may differentially affect the activity of alternative gene products, whereas missense, silent and non-coding mutations may alter developmental regulation of splic...

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Source

Identifiers

PMID: 16565161
DOI: 10.1093/hmg/ddl068

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-16565161-2026-09-02.1. Manifest publication-graph-cohort-2026-09-02.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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