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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:COL9A1

Variant:p.E449del1

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COL9A1

NM_001851.6:p.E449del1

hg38:chr6:70263287 CCTT>C

Associated Papers

Genetic variations in pseudoachondroplasia: a review of case reports.

Petryka L et al.

Laboratory Medicine, 2025

40249137 (PubMed )

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