Varaico: Literature-Extracted Genetic Variants

Gene:JADE1
Variant:p.Q255R
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JADE1

NM_199320.4:p.Q255R

Associated Papers

Genome-wide linkage and haplotype sharing analysis implicates the MCDR3 locus as a candidate region for a developmental macular disorder in association with digit abnormalities.

Cipriani V et al.

Ophthalmic Genetics, 2017

28635424 (PubMed )
Supplement: supplement_1.pdf
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