Varaico: Literature-Extracted Genetic Variants

Gene:COL11A1
Variant:p.Q522R
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COL11A1

NM_001854.4:p.Q522R

Associated Papers

Aggregated Genomic Data as Cohort-Specific Allelic Frequencies can Boost Variants and Genes Prioritization in Non-Solved Cases of Inherited Retinal Dystrophies.

Iancu IF et al.

International Journal of Molecular Sciences, 2022

35955564 (PubMed )
Supplement: ijms-23-08431-s001.zip › ijms-1808225-supplementary.pdf
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