Varaico: Literature-Extracted Genetic Variants

Gene:TTC31
Variant:p.D500H
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TTC31

NM_022492.6:p.D500H

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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