Varaico: Literature-Extracted Genetic Variants

Gene:ACAN
Variant:p.E83V
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ACAN

NM_001369268.1:p.E83V

Associated Papers

Case report: A novel heterozygous frameshift mutation of ACAN in a Chinese family with short stature and advanced bone age.

Huang H et al.

Frontiers in Genetics, 2023

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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."