Varaico: Literature-Extracted Genetic Variants

Gene:PRKAR1A
Variant:p.S147Splc
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PRKAR1A

NM_002734.5:p.S147Splc

Associated Papers

From misclassified AIP variant to carney complex: a case report and retrospective evaluation of PRKAR1A in pituitary tumor predisposition.

Piazzola C et al.

Pituitary, 2025

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

Acromegaly in Carney complex.

Cuny T et al.

Pituitary, 2019

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

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

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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."