Varaico: Literature-Extracted Genetic Variants

Gene:ABCA12
Variant:p.C185R
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ABCA12

NM_173076.3:p.C185R

Associated Papers

ConVarT: a search engine for matching human genetic variants with variants from non-human species.

Pir MS et al.

Nucleic Acids Research, 2022

34718716 (PubMed )
Supplement: gkab939_supplemental_files.zip › Table_S10.xls › Sheet1

Copy-number variation is an important contributor to the genetic causality of inherited retinal degenerations.

Bujakowska KM et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017

27735924 (PubMed )
Supplement: NIHMS819557-supplement-Supplementary___Appendix__online_only_material__etc__.pdf
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