Varaico: Literature-Extracted Genetic Variants

Gene:GNAS
Variant:p.D183Y
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GNAS

NM_000516.7:p.D183Y

Associated Papers

Carney complex and McCune Albright syndrome: an overview of clinical manifestations and human molecular genetics.

Salpea P et al.

Molecular and Cellular Endocrinology, 2014

Mutations and polymorphisms in the gene encoding regulatory subunit type 1-alpha of protein kinase A (PRKAR1A): an update.

Horvath A et al.

Human Mutation, 2010

Carney complex and lentiginosis.

Horvath A et al.

Pigment Cell & Melanoma Research, 2009

The transcriptome that mediates increased cyclic adenosine monophosphate signaling in PRKAR1A defects and other settings.

Azevedo MF et al.

Endocrine Practice : Official Journal of the American College of Endocrinology and the American Association of Clinical Endocrinologists, 0

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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."