Varaico: Literature-Extracted Genetic Variants

Gene:CREBBP
Variant:p.A2407delFs
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CREBBP

NM_004380.3:p.A2407delFs

Associated Papers

First case report of inherited Rubinstein-Taybi syndrome associated with a novel EP300 variant.

López M et al.

Bmc Medical Genetics, 2016

27964710 (PubMed )
Supplement: 12881_2016_361_MOESM1_ESM.xls › Phenotype__Patient_and_mother_
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