Varaico: Literature-Extracted Genetic Variants

Gene:PRKAR1B
Variant:p.A300T
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PRKAR1B

NM_001164760.2:p.A300T

Associated Papers

Phenotypic characterization of seven individuals with Marbach-Schaaf neurodevelopmental syndrome.

Marbach F et al.

American Journal of Medical Genetics. Part A, 2022

Molecular Mechanisms of Functional Adrenocortical Adenoma and Carcinoma: Genetic Characterization and Intracellular Signaling Pathway.

Shimada H et al.

Biomedicines, 2021

Genomic and sequence variants of protein kinase A regulatory subunit type 1β (PRKAR1B) in patients with adrenocortical disease and Cushing syndrome.

Drougat L et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021

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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."