Varaico: Literature-Extracted Genetic Variants

Gene:COL9A2
Variant:p.P661L
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COL9A2

NM_001852.4:p.P661L

Associated Papers

Diagnostic value of partial exome sequencing in developmental disorders.

Gieldon L et al.

Plos One, 2018

30091983 (PubMed )
Supplement: pone.0201041.s006.xlsx › Tabelle1

Rare variants in CFI, C3 and C9 are associated with high risk of advanced age-related macular degeneration.

Seddon JM et al.

Nature Genetics, 2013

24036952 (PubMed )
Supplement: NIHMS512112-supplement-2.xlsx › Supplementary_Table_2B
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