Varaico: Literature-Extracted Genetic Variants

Gene:PRKAR1A
Variant:p.W190_A191delFs
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PRKAR1A

NM_002734.5:p.W190_A191delFs

Associated Papers

Inactivating PTH/PTHrP signaling disorders (iPPSDs): evaluation of the new classification in a multicenter large series of 544 molecularly characterized patients.

Pereda A et al.

European Journal of Endocrinology, 2021

Pseudohypoparathyroidism type Ia and pseudo-pseudohypoparathyroidism: the growing spectrum of GNAS inactivating mutations.

Elli FM et al.

Human Mutation, 2013

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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."