Varaico: Literature-Extracted Genetic Variants

Gene:PRKAR1A
Variant:p.E17*
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PRKAR1A

NM_002734.5:p.E17*

Associated Papers

The clinical characteristics and pathogenic variants of primary pigmented nodular adrenocortical disease in 210 patients: a systematic review.

Sun J et al.

Frontiers in Endocrinology, 2024

Association between subclinical hyperthyroidism and a PRKAR1A gene variant in Carney complex patients: A case report and systematic review.

Wang H et al.

Frontiers in Endocrinology, 2022

Recurrent left atrial myxoma in Carney complex: A case report of a familial pedigree.

Wang L et al.

Medicine, 2018

A Novel Mutation in the type Iα Regulatory Subunit of Protein Kinase A (PRKAR1A) in a Cushing's Syndrome Patient with Primary Pigmented Nodular Adrenocortical Disease.

Mineo R et al.

Internal Medicine (tokyo, Japan), 2016

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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."