Varaico: Literature-Extracted Genetic Variants

Gene:ACAN
Variant:p.Q187insFs
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ACAN

NM_001369268.1:p.Q187insFs

Associated Papers

Genotype and phenotype in patients with ACAN gene variants: Three cases and literature review.

Tang W et al.

Molecular Genetics & Genomic Medicine, 2024

Novel missense ACAN gene variants linked to familial osteochondritis dissecans cluster in the C-terminal globular domain of aggrecan.

Stattin EL et al.

Scientific Reports, 2022

35338222 (PubMed )
Supplement: 41598_2022_9211_MOESM1_ESM.pdf

The Spectrum of ACAN Gene Mutations in a Selected Chinese Cohort of Short Stature: Genotype-Phenotype Correlation.

Wu S et al.

Frontiers in Genetics, 2022

35620465 (PubMed )
Supplement: DataSheet1.XLSX › STab2

A High Proportion of Novel ACAN Mutations and Their Prevalence in a Large Cohort of Chinese Short Stature Children.

Lin L et al.

The Journal of Clinical Endocrinology and Metabolism, 2021

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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."