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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CEP43

Variant:p.E25delFs

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CEP43

NM_007045.4:p.E25delFs

hg38:chr6:166999485 GA>G

Associated Papers

Evaluating the variety of GNAS inactivation disorders and their clinical manifestations in 11 Chinese children.

Chang G et al.

Bmc Endocrine Disorders, 2022

35296306 (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."