Varaico: Literature-Extracted Genetic Variants

Gene:GPR101
Variant:p.T293I
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GPR101

NM_054021.2:p.T293I

Associated Papers

Concurrent mutations of germline GPR101 and somatic USP8 in a pediatric giant pituitary ACTH adenoma: a case report.

Bao XD et al.

Bmc Endocrine Disorders, 2022

HEREDITARY ENDOCRINE TUMOURS: CURRENT STATE-OF-THE-ART AND RESEARCH OPPORTUNITIES: GPR101, an orphan GPCR with roles in growth and pituitary tumorigenesis.

Trivellin G et al.

Endocrine-related Cancer, 2020

Screening for GPR101 defects in pediatric pituitary corticotropinomas.

Trivellin G et al.

Endocrine-related Cancer, 2016

GPR101 Mutations are not a Frequent Cause of Congenital Isolated Growth Hormone Deficiency.

Castinetti F et al.

Hormone and Metabolic Research = Hormon- Und Stoffwechselforschung = Hormones Et Metabolisme, 2016

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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."