Varaico: Literature-Extracted Genetic Variants

Gene:IGFALS
Variant:p.G34delFs
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IGFALS

NM_004970.3:p.G34delFs

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

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

Domené HM et al.

Hormone Research, 2009

Frontotemporal Dementia in Russia: Genetic Structure, Phenotypic Diversity, and Diagnostic Biomarkers.

Shpilyukova YA et al.

Basic and Clinical Neuroscience, 0

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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."