Varaico: Literature-Extracted Genetic Variants

Gene:PRKAR1A
Variant:p.A268V
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PRKAR1A

NM_002734.5:p.A268V

Associated Papers

Identification of novel pathogenic variants and features in patients with pseudohypoparathyroidism and acrodysostosis, subtypes of the newly classified inactivating PTH/PTHrP signaling disorders.

Truelove A et al.

American Journal of Medical Genetics. Part A, 2019

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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."