Varaico: Literature-Extracted Genetic Variants

Gene:PRKACB
Variant:p.K333del1
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PRKACB

NM_182948.4:p.K333del1

Associated Papers

A novel PRKACB variant associated with bilateral postaxial polydactyly and intrauterine growth restriction: A case report and literature review.

Zhang Y et al.

Global Medical Genetics, 2025

PRKACB variants in skeletal disease or adrenocortical hyperplasia: effects on protein kinase A.

Espiard S et al.

Endocrine-related Cancer, 2020

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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."