Varaico: Literature-Extracted Genetic Variants

Gene:GH1
Variant:p.S83P
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GH1

NM_000515.5:p.S83P

Associated Papers

Long-term follow-up of combined pituitary hormone deficiency in two siblings with a Prophet of Pit-1 gene mutation.

Georgopoulos NA et al.

Gynecological Endocrinology : the Official Journal of the International Society of Gynecological Endocrinology, 2006

Growth hormone deficiency and combined pituitary hormone deficiency: does the genotype matter?

Dattani MT

Clinical Endocrinology, 2005

Genetic characterization of growth hormone deficiency and resistance: implications for treatment with recombinant growth hormone.

Baumann G

American Journal of Pharmacogenomics : Genomics-related Research in Drug Development and Clinical Practice, 2002

Biochemical and genetic characterization of the porcine Prophet of Pit-1 pituitary transcription factor.

Sloop KW et al.

Molecular and Cellular Endocrinology, 2000

Central hypothyroidism reveals compound heterozygous mutations in the Pit-1 gene.

Brown MR et al.

Hormone Research, 1998

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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."