Analysis of mutations within the intron20 splice donor site of CREBBP in patients with and without classical RSTS
Por um escritor misterioso
Last updated 03 abril 2025


Frontiers A Severe Dementia Syndrome Caused by Intron Retention and Cryptic Splice Site Activation in STUB1 and Exacerbated by TBP Repeat Expansions

Characterization of splice-altering mutations in inherited predisposition to cancer

Characterization of splice-altering mutations in inherited predisposition to cancer

Research articles European Journal of Human Genetics

Comprehensive characterisation of intronic mis-splicing mutations in human cancers

Characterization of splice-altering mutations in inherited predisposition to cancer

Evolution of the U2 Spliceosome for Processing Numerous and Highly Diverse Non-canonical Introns in the Chordate Fritillaria borealis - ScienceDirect

CREBBP - Wicipedia

Short Report European Journal of Human Genetics

Systematic Analysis of Splice-Site-Creating Mutations in Cancer - ScienceDirect

Short Report European Journal of Human Genetics
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