Associated Papers
Molecular Mechanisms and Clinical Phenotypes of GJB2 Missense Variants.
Mao L et al.
Biology, 2023
37106706 (PubMed )
Supplement: biology-12-00505-s001.zip › biology-2074814-supplementary.xlsx › Table_S1
De novo and inherited variants in ZNF292 underlie a neurodevelopmental disorder with features of autism spectrum disorder.
Mirzaa GM et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
31723249 (PubMed )
Supplement: NIHMS1543809-supplement-Supplementary_data__clean_version_.docx
Very low penetrance of hearing loss in seven Han Chinese pedigrees carrying the deafness-associated 12S rRNA A1555G mutation.
Tang X et al.
Gene, 2007
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