A novel homozygous variant of GPR98 causes usher syndrome type IIC in a consanguineous Chinese family by next generation sequencing

Lignende værker

• A novel, homozygous nonsense variant of the CDHR1 gene in a Chinese family causes autosomal recessive retinal dystrophy by NGS‐based genetic diagnosis
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• A large deletion in GPR98 causes type IIC Usher syndrome in male and female patients of an Iranian family
  af: Hilgert, Nele, et al.
  Udgivet: (2009)
• A case of Usher syndrome type IIA caused by a rare USH2A homozygous frameshift variant with maternal uniparental disomy (UPD) in a Chinese family
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