Varaico: Literature-Extracted Genetic Variants

Gene:GH1
Variant:p.M1I
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GH1

NM_000515.5:p.M1I

Associated Papers

Evidence for a continuum of genetic, phenotypic, and biochemical abnormalities in children with growth hormone insensitivity.

David A et al.

Endocrine Reviews, 2011

Mutations of the gene encoding the protein kinase A type I-alpha regulatory subunit (PRKAR1A) in patients with the "complex of spotty skin pigmentation, myxomas, endocrine overactivity, and schwannomas" (Carney complex).

Stratakis CA

Annals of the New York Academy of Sciences, 2002

Nine novel growth hormone receptor gene mutations in patients with Laron syndrome.

Sobrier ML et al.

The Journal of Clinical Endocrinology and Metabolism, 1997

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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."