Varaico: Literature-Extracted Genetic Variants

Gene:PRKAR1A
Variant:p.F293L
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PRKAR1A

NM_002734.5:p.F293L

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

Screening of PRKAR1A and PDE4D in a Large Italian Series of Patients Clinically Diagnosed With Albright Hereditary Osteodystrophy and/or Pseudohypoparathyroidism.

Elli FM et al.

Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2016

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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."