Varaico: Literature-Extracted Genetic Variants

Gene:IGFALS
Variant:p.L497insFs
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IGFALS

NM_004970.3:p.L497insFs

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

Genetic Defects in the Growth Hormone-IGF-I Axis Causing Growth Hormone Insensitivity and Impaired Linear Growth.

Savage MO et al.

Frontiers in Endocrinology, 2011

Impact of heterozygosity for acid-labile subunit (IGFALS) gene mutations on stature: results from the international acid-labile subunit consortium.

Fofanova-Gambetti OV et al.

The Journal of Clinical Endocrinology and Metabolism, 2010

Human acid-labile subunit deficiency: clinical, endocrine and metabolic consequences.

Domené HM et al.

Hormone Research, 2009

Homozygous and heterozygous expression of a novel mutation of the acid-labile subunit.

van Duyvenvoorde HA et al.

European Journal of Endocrinology, 2008

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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."