Varaico: Literature-Extracted Genetic Variants

Gene:ACAN
Variant:p.D304N
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ACAN

NM_001369268.1:p.D304N

Associated Papers

Mutational analysis of consanguineous families and their targeted therapy against dwarfism.

Khan F et al.

Journal of Biomolecular Structure & Dynamics, 2025

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

Tang W et al.

Molecular Genetics & Genomic Medicine, 2024

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."