Novel compound heterozygous nonsense variants, p.L150* and p.Y3565*, of the USH2A gene in a Chinese pedigree are associated with Usher syndrome type IIA

Схожие документы

• A case of Usher syndrome type IIA caused by a rare USH2A homozygous frameshift variant with maternal uniparental disomy (UPD) in a Chinese family
  по: Fu, Jiewen, et al.
  Опубликовано: (2020)
• Targeted Next-Generation Sequencing Identified Novel Compound Heterozygous Variants in the CDH23 Gene Causing Usher Syndrome Type ID in a Chinese Patient
  по: Zhang, Lianmei, et al.
  Опубликовано: (2020)
• A novel splicing mutation in the PRPH2 gene causes autosomal dominant retinitis pigmentosa in a Chinese pedigree
  по: Cheng, Jingliang, et al.
  Опубликовано: (2019)
• Novel compound heterozygous EYS variants may be associated with arRP in a large Chinese pedigree
  по: Wei, Chunli, et al.
  Опубликовано: (2020)
• Identification of a novel germline BRCA2 variant in a Chinese breast cancer family
  по: Cheng, Jingliang, et al.
  Опубликовано: (2019)