Varaico: Literature-Extracted Genetic Variants

Gene:PRKAR1A
Variant:p.L15_L20delFs
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PRKAR1A

NM_002734.5:p.L15_L20delFs

Associated Papers

Myxoma of the ear lobe in a 23-month-old girl with Carney complex.

Briassoulis G et al.

Journal of Cutaneous Pathology, 2012

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

Abnormalities of cAMP signaling are present in adrenocortical lesions associated with ACTH-independent Cushing syndrome despite the absence of mutations in known genes.

Bimpaki EI et al.

European Journal of Endocrinology, 2009

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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."