Varaico: Literature-Extracted Genetic Variants

Gene:PRKAR1B
Variant:p.D183Y
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PRKAR1B

NM_001164760.2:p.D183Y

Associated Papers

Expansion of the Phenotypic and Genotypic Spectrum for PRKAR1B-Related Marbach-Schaaf Neurodevelopmental Syndrome: A Case Series.

Burkart S et al.

Clinical Genetics, 2025

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

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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."