Varaico: Literature-Extracted Genetic Variants

Gene:GHR
Variant:p.D262Splc
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GHR

NM_000163.5:p.D262Splc

Associated Papers

Genetic causes and treatment of isolated growth hormone deficiency-an update.

Alatzoglou KS et al.

Nature Reviews. Endocrinology, 2010

Identification of a novel splicing mutation in the growth hormone (GH)-releasing hormone receptor gene in a Chinese family with pituitary dwarfism.

Wang Q et al.

Molecular and Cellular Endocrinology, 2009

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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."