Varaico: Literature-Extracted Genetic Variants

Gene:CREBBP
Variant:p.P875delFs
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CREBBP

NM_004380.3:p.P875delFs

Associated Papers

High molecular diagnostic yields and novel phenotypic expansions involving syndromic anorectal malformations.

Belanger Deloge R et al.

European Journal of Human Genetics : Ejhg, 2023

Type II enteropathy-associated T-cell lymphoma features a unique genomic profile with highly recurrent SETD2 alterations.

Roberti A et al.

Nature Communications, 2016

27600764 (PubMed )
Supplement: ncomms12602-s2.xlsx › Supplementary_Data_2
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."