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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CREBBP

Variant:p.S895S

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CREBBP

NM_004380.3:p.S895S

hg38:chr16:3770765 G>C

Associated Papers

Pallister-Hall syndrome, GLI3, and kidney malformation.

McClelland K et al.

American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2022

36165461 (PubMed )

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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."