Varaico: Literature-Extracted Genetic Variants

Gene:IGF2
Variant:p.L134Q
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IGF2

NM_000612.6:p.L134Q

Associated Papers

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

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."