Varaico: Literature-Extracted Genetic Variants

Gene:IGFALS
Variant:p.E35fs
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IGFALS

NM_004970.3:p.E35fs

Associated Papers

Characterization of four Latin American families confirms previous findings and reveals novel features of acid-labile subunit deficiency.

Scaglia PA et al.

Clinical Endocrinology, 2017

Assessment of pathogenicity of natural IGFALS gene variants by in silico bioinformatics tools and in vitro functional studies.

Martucci LC et al.

Molecular and Cellular Endocrinology, 2016

Heterozygous IGFALS gene variants in idiopathic short stature and normal children: impact on height and the IGF system.

Domené HM et al.

Hormone Research in Paediatrics, 2013

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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."