Varaico: Literature-Extracted Genetic Variants

Gene:CREBBP
Variant:p.P1991L
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CREBBP

NM_004380.3:p.P1991L

Associated Papers

Functional analysis of a novel pathogenic variant in CREBBP associated with bone development.

Fang Q et al.

Pediatric Research, 2024

Organismal metabolism regulates the expansion of oncogenic PIK3CA mutant clones in normal esophagus.

Herms A et al.

Nature Genetics, 2024

39169259 (PubMed )
Supplement: 41588_2024_1891_MOESM6_ESM.xlsx › Fig_1a

Identification of the genetic basis of sporadic polydactyly in China by targeted sequencing.

Zu B et al.

Computational and Structural Biotechnology Journal, 2021

34194672 (PubMed )
Supplement: mmc1.xlsx › S3
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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."