Associated Papers
GJA8-associated developmental eye disorders: a new multicentre study highlights mutational hotspots and genotype-phenotype correlations.
Merepa SS et al.
European Journal of Human Genetics : Ejhg, 2025
Differential Domain Distribution of gnomAD- and Disease-Linked Connexin Missense Variants.
Bai D et al.
International Journal of Molecular Sciences, 2021
34360596 (PubMed )
Supplement: ijms-22-07832-s001.zip › ijms-1281081_supplemental-tables-June10-2021.pdf
Confirming putative variants at ≤ 5% allele frequency using allele enrichment and Sanger sequencing.
Yan YH et al.
Scientific Reports, 2021
34079006 (PubMed )
Supplement: 41598_2021_91142_MOESM2_ESM.xlsx › FFPE
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