Analysis of mutations within the intron20 splice donor site of CREBBP in patients with and without classical RSTS

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PDF) Spectrum of CREBBP mutations in Indian patients with Rubinstein-Taybi syndrome

IJMS, Free Full-Text

Comprehensive characterisation of intronic mis-splicing mutations in human cancers

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Splice-site mutation causing partial retention of intron in the FLCN gene in Birt-Hogg-Dubé syndrome: a case report, BMC Medical Genomics

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PDF) Spectrum of CREBBP mutations in Indian patients with Rubinstein-Taybi syndrome

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