Varaico: Literature-Extracted Genetic Variants

Gene:PRKAR1A
Variant:p.S147Splc
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PRKAR1A

NM_002734.5:p.S147Splc

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

Atypical Presentation and Course of ACTH-Independent Cushing’s Syndrome in Two Families

Yüksek Acınıklı K et al.

Journal of Clinical Research in Pediatric Endocrinology, 2023

Genetic and clinical phenotypic analysis of carney complex with external auditory canal myxoma.

Wan W et al.

Frontiers in Genetics, 2022

A novel splice site mutation of the PRKAR1A gene, C.440+5 G>C, in a Chinese family with Carney complex.

Fu J et al.

Journal of Endocrinological Investigation, 2018

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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."