Associated Papers
Genetic Mutations in Cell Junction Proteins Associated with Brain Calcification.
Yang D et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2025
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
Biallelic mutations in pakistani families with autosomal recessive prelingual nonsyndromic hearing loss.
Choi HJ et al.
Genes & Genomics, 2023
Clinical, audiometric, radiologic, and genetic profiles of Southeast Asian children with hearing loss due to enlarged vestibular aqueduct.
Lim L et al.
Otology & Neurotology : Official Publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology, 2011
The FBN2 gene: new mutations, locus-specific database (Universal Mutation Database FBN2), and genotype-phenotype correlations.
Frédéric MY et al.
Human Mutation, 2009
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