Varaico: Literature-Extracted Genetic Variants

Gene:PRKACA
Variant:p.L28F
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PRKACA

NM_002730.4:p.L28F

Associated Papers

Consensus statement by the French Society of Endocrinology (SFE) and French Society of Pediatric Endocrinology & Diabetology (SFEDP) for the diagnosis of Cushing's syndrome: Genetics of Cushing's syndrome.

Martinerie L et al.

Annales D'endocrinologie, 2024

MANAGEMENT OF ENDOCRINE DISEASE: Carney complex: clinical and genetic update 20 years after the identification of the CNC1 (PRKAR1A) gene.

Bouys L et al.

European Journal of Endocrinology, 2021

Carney complex: an update.

Correa R et al.

European Journal of Endocrinology, 2015

Mutations and polymorphisms in the gene encoding regulatory subunit type 1-alpha of protein kinase A (PRKAR1A): an update.

Horvath A et al.

Human Mutation, 2010

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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."