Varaico: Literature-Extracted Genetic Variants

Gene:GNAS
Variant:p.Y190delFs
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GNAS

NM_000516.7:p.Y190delFs

Associated Papers

Diagnosis and approach of pseudohypoparathyroidism type 1A and related disorders during long term follow-up: a case report.

Expósito Raspeño M et al.

Journal of Pediatric Endocrinology & Metabolism : Jpem, 2024

GNAS mutations in Pseudohypoparathyroidism type 1a and related disorders.

Lemos MC et al.

Human Mutation, 2015

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

Identification of a novel mutation in a patient with pseudohypoparathyroidism type Ia.

Lee YS et al.

Korean Journal of Pediatrics, 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

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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."