Varaico: Literature-Extracted Genetic Variants

Gene:GNAS
Variant:p.P361_H362insFs
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GNAS

NM_000516.7:p.P361_H362insFs

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

Increased prevalence of carpal tunnel syndrome in albright hereditary osteodystrophy.

Joseph AW et al.

The Journal of Clinical Endocrinology and Metabolism, 2011

Short stature, obesity, and growth hormone deficiency in pseudohypoparathyroidism type 1a.

Germain-Lee EL

Pediatric Endocrinology Reviews : Per, 2006

Growth hormone deficiency in pseudohypoparathyroidism type 1a: another manifestation of multihormone resistance.

Germain-Lee EL et al.

The Journal of Clinical Endocrinology and Metabolism, 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."