Associated Papers
Four novel compound heterozygous mutations in C5orf42 gene in patients with pure and mild Joubert syndrome.
Liu Q et al.
International Journal of Developmental Neuroscience : the Official Journal of the International Society for Developmental Neuroscience, 2020
Joubert syndrome: genotyping a Northern European patient cohort.
Kroes HY et al.
European Journal of Human Genetics : Ejhg, 2016
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