Varaico: Literature-Extracted Genetic Variants

Gene:GH1
Variant:p.L101L
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GH1

NM_000515.5:p.L101L

Associated Papers

Early-Onset Central Diabetes Insipidus due to Compound Heterozygosity for AVP Mutations.

Bourdet K et al.

Hormone Research in Paediatrics, 2016

Activating point mutations in the betaC chain of the GM-CSF, IL-3 and IL-5 receptors are not a major contributory factor in the pathogenesis of acute myeloid leukaemia.

Freeburn RW et al.

British Journal of Haematology, 1998

The beta subunit common to the GM-CSF, IL-3 and IL-5 receptors is highly polymorphic but pathogenic point mutations in patients with acute myeloid leukaemia (AML) are rare.

Freeburn RW et al.

Leukemia, 1996

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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."