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Fig. 3 | BMC Endocrine Disorders

Fig. 3

From: Atypical presentation of pseudohypoparathyroidism with absence of mutations in the GNAS gene: a case report

Fig. 3

Sanger sequencing results of the GHSR gene. This image illustrates the sequencing results for the growth hormone secretagogue receptor (GHSR) gene located on chromosome 3 at position 172,163,127, exon 2 (NM_198407.2). It identifies a c.925T > A (p.Phe309Ile) missense mutation in the exon region of the GHSR gene. This particular mutation has not been cataloged in the Human Gene Mutation Database (HGMD) or the Genome Aggregation Database (gnomAD). At present, it is classified as a variant of unknown clinical significance due to the limited evidence

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BMC Endocrine Disorders

ISSN: 1472-6823

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