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RNA sequencing to support intronic variant interpretation: A case report of TRAPPC12-related disorder

Priya T Bhola1,2, Aren E Marshall2,3, Yijing Liang4

  • 1Regional Genetics Program, Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada.

American Journal of Medical Genetics. Part A
|March 30, 2023
PubMed
Abstract

No abstract available in PubMed .

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Alternative RNA Splicing02:18

Alternative RNA Splicing

Alternative RNA splicing is the regulated splicing of exons and introns to produce different mature mRNAs from a single pre-mRNA. Unlike in constitutive splicing where a single gene produces a single type of mRNA, alternative splicing allows an organism to produce multiple proteins from a single gene and plays an important role in protein diversity.
There are five types of alternative RNA splicing that vary in the ways the pre-mRNA segments are removed or retained in the mature mRNA. The first...