Varaico: Literature-Extracted Genetic Variants

Gene:IGFALS
Variant:p.N84S
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IGFALS

NM_004970.3:p.N84S

Associated Papers

Genetic Findings in Short Turkish Children Born to Consanguineous Parents.

Joustra SD et al.

Hormone Research in Paediatrics, 2025

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

Kim H et al.

Nature Communications, 2022

Clinical and biochemical characteristics and bone mineral density of homozygous, compound heterozygous and heterozygous carriers of three novel IGFALS mutations.

Işık E et al.

European Journal of Endocrinology, 2017

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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."