Varaico: Literature-Extracted Genetic Variants

Gene:PRKAR1A
Variant:p.V267insFs
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PRKAR1A

NM_002734.5:p.V267insFs

Associated Papers

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

Almeida MQ et al.

Arquivos Brasileiros De Endocrinologia E Metabologia, 2004

Protein kinase-A activity in PRKAR1A-mutant cells, and regulation of mitogen-activated protein kinases ERK1/2.

Robinson-White A et al.

Human Molecular Genetics, 2003

Mutations of the gene encoding the protein kinase A type I-alpha regulatory subunit (PRKAR1A) in patients with the "complex of spotty skin pigmentation, myxomas, endocrine overactivity, and schwannomas" (Carney complex).

Stratakis CA

Annals of the New York Academy of Sciences, 2002

Genetic heterogeneity and spectrum of mutations of the PRKAR1A gene in patients with the carney complex.

Kirschner LS et al.

Human Molecular Genetics, 2000

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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."