Associated Papers
von Willebrand factor A domain containing 8 (VWA8)- associated retinitis pigmentosa: description of a novel case and expansion of the phenotype.
Chacon-Camacho OF et al.
International Ophthalmology, 2025
Mutations in VWA8 cause autosomal-dominant retinitis pigmentosa via aberrant mitophagy activation.
Kong L et al.
Journal of Medical Genetics, 2023
MicroRNA-655-3p and microRNA-497-5p inhibit cell proliferation in cultured human lip cells through the regulation of genes related to human cleft lip.
Gajera M et al.
Bmc Medical Genomics, 2019
31122291 (PubMed )
Supplement: 12920_2019_535_MOESM1_ESM.zip › 4_Human_Cleft_Lip__Table_S4__Significant_R2.xlsx › Multiple_Genes_Significant
Using Whole Exome Sequencing to Identify Candidate Genes With Rare Variants In Nonsyndromic Cleft Lip and Palate.
Aylward A et al.
Genetic Epidemiology, 2016
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