Varaico: Literature-Extracted Genetic Variants

Gene:GNAS
Variant:p.V367insFs
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GNAS

NM_000516.7:p.V367insFs

Associated Papers

Resting Energy Expenditure Is Decreased in Pseudohypoparathyroidism Type 1A.

Roizen JD et al.

The Journal of Clinical Endocrinology and Metabolism, 2016

GNAS mutations in Pseudohypoparathyroidism type 1a and related disorders.

Lemos MC et al.

Human Mutation, 2015

25219572 (PubMed )
Supplement: humu0036-0011-sd1.pdf

A novel mutation causing pseudohypoparathyroidism 1A with congenital hypothyroidism and osteoma cutis.

Lubell T et al.

Journal of Clinical Research in Pediatric Endocrinology, 2009

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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."