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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:COL9A1

Variant:p.P533S

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COL9A1

NM_001851.6:p.P533S

hg38:chr6:70255164 G>A

Associated Papers

Expanding the phenotype spectrum associated with pathogenic variants in the COL2A1 and COL11A1 genes.

Čopíková J et al.

Annals of Human Genetics, 2020

32427345 (PubMed )

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