Varaico: Literature-Extracted Genetic Variants

Gene:GNAS
Variant:p.Q227insFs
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GNAS

NM_000516.7:p.Q227insFs

Associated Papers

GNAS mutations in Pseudohypoparathyroidism type 1a and related disorders.

Lemos MC et al.

Human Mutation, 2015

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

Progressive osseous heteroplasia resulting from a new mutation in the GNAS1 gene.

Chan I et al.

Clinical and Experimental Dermatology, 2004

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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."