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Article

A de novo 50-bp GNAS Intragenic Duplication in a Patient with Pseudohypoparathyroidism Type 1a.

Cytogenetic and genome research - 1 Jan 2017

Suzuki Erina, Bo Ryosuke, Sue Kaori, Awano Hiroyuki, Ogata Tsutomu, Narumi Satoshi, Kagami Masayo, Sano Shinichiro, Fukami Maki

Abstract excerpt

Germline intragenic mutations in the GNAS locus result in pseudohypoparathyroidism type 1a (PHP1a) and related conditions. Nearly half of the previously reported GNAS intragenic mutations were structural variants, including 3 tandem duplications of 12-25 bp. However, the precise mutation spectrum and the genomic basis of GNAS structural variants remain to be clarified. Here, we report a de novo 50-bp tandem...

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Source

Identifiers

PMID: 29320763
DOI: 10.1159/000485644

Genes

GNAS

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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