Varaico: Literature-Extracted Genetic Variants

Gene:ACAN
Variant:p.A180T
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ACAN

NM_001369268.1:p.A180T

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

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

Diseases Caused by Mutations in Mitochondrial Carrier Genes SLC25: A Review.

Palmieri F et al.

Biomolecules, 2020

32340404 (PubMed )
Supplement: biomolecules-10-00655-s001.pdf
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