Varaico: Literature-Extracted Genetic Variants

Gene:PRKACA
Variant:p.M1V
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PRKACA

NM_002730.4:p.M1V

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

Genetic Alterations in Benign Adrenal Tumors.

Pitsava G et al.

Biomedicines, 2022

Molecular Genetic and Genomic Alterations in Cushing's Syndrome and Primary Aldosteronism.

Kamilaris CDC et al.

Frontiers in Endocrinology, 2021

Adrenocortical tumorigenesis: Lessons from genetics.

Kamilaris CDC et al.

Best Practice & Research. Clinical Endocrinology & Metabolism, 2020

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."