Varaico: Literature-Extracted Genetic Variants

Gene:ACAN
Variant:p.R502P
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ACAN

NM_001369268.1:p.R502P

Associated Papers

Population-specific putative causal variants shape quantitative traits.

Koyama S et al.

Nature Genetics, 2024

39363016 (PubMed )
Supplement: 41588_2024_1913_MOESM3_ESM.xlsx › ST8_Missense_PPI___0.1

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

Next generation sequencing-based mutation screening of 86 patients with idiopathic short stature.

Hattori A et al.

Endocrine Journal, 2017

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