Varaico: Literature-Extracted Genetic Variants

Gene:IGFALS
Variant:p.G479D
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IGFALS

NM_004970.3:p.G479D

Associated Papers

A novel mutation in IGFALS, c.380T>C (p.L127P), associated with short stature, delayed puberty, osteopenia and hyperinsulinaemia in two siblings: insights into the roles of insulin growth factor-1 (IGF1).

Hess O et al.

Clinical Endocrinology, 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."