Varaico: Literature-Extracted Genetic Variants

Gene:CREBBP
Variant:p.S908fs
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CREBBP

NM_004380.3:p.S908fs

Associated Papers

Whole exome sequencing for a patient with Rubinstein-Taybi syndrome reveals de novo variants besides an overt CREBBP mutation.

Yoo HJ et al.

International Journal of Molecular Sciences, 2015

25768348 (PubMed )
Supplement: ijms-16-05697-s001.pdf
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