Varaico: Literature-Extracted Genetic Variants

Gene:PRKAR1A
Variant:p.A71A
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PRKAR1A

NM_002734.5:p.A71A

Associated Papers

Endocrinological and phenotype evaluation in a patient with acrodysostosis.

Ueyama K et al.

Clinical Pediatric Endocrinology : Case Reports and Clinical Investigations : Official Journal of the Japanese Society for Pediatric Endocrinology, 2017

Functional Characterization of PRKAR1A Mutations Reveals a Unique Molecular Mechanism Causing Acrodysostosis but Multiple Mechanisms Causing Carney Complex.

Rhayem Y et al.

The Journal of Biological Chemistry, 2015

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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."