Varaico: Literature-Extracted Genetic Variants

Gene:COL2A1
Variant:p.P1021_L1027del0
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COL2A1

NM_001844.5:p.P1021_L1027del0

Associated Papers

Genome sequencing in a cohort of 32 fetuses with genetic skeletal disorders.

Lindelöf H et al.

European Journal of Human Genetics : Ejhg, 2025

Molecular genetics of the COL2A1-related disorders.

Deng H et al.

Mutation Research. Reviews in Mutation Research, 0

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