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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:COL2A1

Variant:p.G273fs

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COL2A1

NM_001844.5:p.G273fs

hg38:chr12:47994047 ACC>N

Associated Papers

The molecular complexity of COL2A1 splicing variants and their significance in phenotype severity.

Viakhireva I et al.

Bone, 2024

38246255 (PubMed )

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