Varaico: Literature-Extracted Genetic Variants

Gene:ACAN
Variant:p.T282I
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ACAN

NM_001369268.1:p.T282I

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

Description of the molecular and phenotypic spectrum in Chinese patients with aggrecan deficiency: Novel ACAN heterozygous variants in eight Chinese children and a review of the literature.

Deng S et al.

Frontiers in Endocrinology, 2022

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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."