Varaico: Literature-Extracted Genetic Variants

Gene:GNAS
Variant:p.I185delFs
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GNAS

NM_000516.7:p.I185delFs

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

Brachydactyly in 14 genetically characterized pseudohypoparathyroidism type Ia patients.

de Sanctis L et al.

The Journal of Clinical Endocrinology and Metabolism, 2004

Molecular analysis of the GNAS1 gene for the correct diagnosis of Albright hereditary osteodystrophy and pseudohypoparathyroidism.

De Sanctis L et al.

Pediatric Research, 2003

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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."