Varaico: Literature-Extracted Genetic Variants

Gene:ACAN
Variant:p.T350S
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ACAN

NM_001369268.1:p.T350S

Associated Papers

Loss-of-Function GHSR Variants Are Associated With Short Stature and Low IGF-I.

Punt LD et al.

The Journal of Clinical Endocrinology and Metabolism, 2025

Genetic Findings in Short Turkish Children Born to Consanguineous Parents.

Joustra SD et al.

Hormone Research in Paediatrics, 2025

38838658 (PubMed )
Supplement: Supplementary_material-Suppl.1-s1.docx
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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."