Varaico: Literature-Extracted Genetic Variants

Gene:GNAS
Variant:p.I182delFs
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GNAS

NM_000516.7:p.I182delFs

Associated Papers

A novel GNAS mutation in pseudohypoparathyroidism type 1a with articular flexion deformity: A case report.

Wan J et al.

Open Life Sciences, 2024

Mild progressive osseous heteroplasia overlap syndrome with PTH and TSH resistance appearing during adolescence and not early childhood.

Ozaki K et al.

Endocrine, 2021

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-like heterotopic ossification in a male infant with pseudohypoparathyroidism type Ia: a case report.

Gelfand IM et al.

Bone, 2007

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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."