Varaico: Literature-Extracted Genetic Variants

Gene:PRKAR1A
Variant:p.S147N
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PRKAR1A

NM_002734.5:p.S147N

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

Carney complex: an update.

Correa R et al.

European Journal of Endocrinology, 2015

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

[Clinical and molecular research in a case of familial Carney complex].

Gu YY et al.

Zhonghua Nei Ke Za Zhi, 2004

Frequent protein kinase A regulatory subunit A1 mutations but no GNAS mutations as potential driver in sporadic cardiac myxomas.

Zimpfer A et al.

Cardiovascular Pathology : the Official Journal of the Society for Cardiovascular Pathology, 0

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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."