Varaico: Literature-Extracted Genetic Variants

Gene:IGFALS
Variant:p.L241P
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IGFALS

NM_004970.3:p.L241P

Associated Papers

Structural basis for assembly and disassembly of the IGF/IGFBP/ALS ternary complex.

Kim H et al.

Nature Communications, 2022

Analysis of acid-labile subunit and its usefulness in pediatrics.

Zaidman VE

Archivos Argentinos De Pediatria, 2017

A new structural model of the acid-labile subunit: pathogenetic mechanisms of short stature-causing mutations.

David A et al.

Journal of Molecular Endocrinology, 2012

Evidence for a continuum of genetic, phenotypic, and biochemical abnormalities in children with growth hormone insensitivity.

David A et al.

Endocrine Reviews, 2011

Acid-labile subunit (ALS) deficiency.

Domené HM et al.

Best Practice & Research. Clinical Endocrinology & Metabolism, 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

Three novel IGFALS gene mutations resulting in total ALS and severe circulating IGF-I/IGFBP-3 deficiency in children of different ethnic origins.

Fofanova-Gambetti OV et al.

Hormone Research, 2009

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

Domené HM et al.

Hormone Research, 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."