Varaico: Literature-Extracted Genetic Variants

Gene:GNAS
Variant:p.I348_S349insC
Back to variants list

GNAS

NM_000516.7:p.I348_S349insC

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

Mutations in pseudohypoparathyroidism 1a and pseudopseudohypoparathyroidism in ethnic Chinese.

Wu YL et al.

Plos One, 2014

Clinical characterization and identification of two novel mutations of the GNAS gene in patients with pseudohypoparathyroidism and pseudopseudohypoparathyroidism.

Jin HY et al.

Clinical Endocrinology, 2011

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

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."