Varaico: Literature-Extracted Genetic Variants

Gene:PRKAR1B
Variant:p.R232Q
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PRKAR1B

NM_001164760.2:p.R232Q

Associated Papers

Pathogenic variation in insulin resistance genes is common in polycystic ovary syndrome (PCOS): a strategy for causal gene discovery using whole-exome sequencing (WES) in complex traits.

Bauer R et al.

Medrxiv : the Preprint Server for Health Sciences, 2025

40832409 (PubMed )
Supplement: media-1.xlsx › S4_-_Variants_Identified

PRKAR1B mutation associated with a new neurodegenerative disorder with unique pathology.

Wong TH et al.

Brain : a Journal of Neurology, 2014

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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."