Varaico: Literature-Extracted Genetic Variants

Gene:GNAS
Variant:p.Y190fs
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GNAS

NM_000516.7:p.Y190fs

Associated Papers

Central Precocious Puberty in a Boy with Pseudohypoparathyroidism Type 1A due to a Novel GNAS Variant, with Congenital Hypothyroidism as the First Manifestation

Wankanit S et al.

Journal of Clinical Research in Pediatric Endocrinology, 2022

Central precocious puberty in a boy with pseudohypoparathyroidism type Ia due to a novel GNAS mutation.

Kagami R et al.

Clinical Pediatric Endocrinology : Case Reports and Clinical Investigations : Official Journal of the Japanese Society for Pediatric Endocrinology, 2020

Clinical and genetic characteristics of Pseudohypoparathyroidism in the Chinese population.

Chu X et al.

Clinical Endocrinology, 2018

GNAS mutations in Pseudohypoparathyroidism type 1a and related disorders.

Lemos MC et al.

Human Mutation, 2015

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