Varaico: Literature-Extracted Genetic Variants

Gene:PRKAR1A
Variant:p.K116_V117Splc
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PRKAR1A

NM_002734.5:p.K116_V117Splc

Associated Papers

Cushing Syndrome in Carney Complex: Clinical, Pathologic, and Molecular Genetic Findings in the 17 Affected Mayo Clinic Patients.

Lowe KM et al.

The American Journal of Surgical Pathology, 2017

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

Mutations in regulatory subunit type 1A of cyclic adenosine 5'-monophosphate-dependent protein kinase (PRKAR1A): phenotype analysis in 353 patients and 80 different genotypes.

Bertherat J et al.

The Journal of Clinical Endocrinology and Metabolism, 2009

Comparative PRKAR1A genotype-phenotype analyses in humans with Carney complex and prkar1a haploinsufficient mice.

Veugelers M et al.

Proceedings of the National Academy of Sciences of the United States of America, 2004

[Carney complex: a case report and literature review].

Almeida MQ et al.

Arquivos Brasileiros De Endocrinologia E Metabologia, 2004

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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."