A Novel Homozygous Abnormal Splice Variant in the Myoferlin Gene Leading to Floppy Infant Syndrome in a Saudi Family

Antzeko izenburuak

• A Novel Homozygous Abnormal Splice Variant in the Myoferlin Gene Leading to Floppy Infant Syndrome in a Saudi Family
  nork: Angham Abdulrahman Abdulkareem, et al.
  Argitaratua: (2023-10-01)
• A novel homozygous splice donor variant in the LRPPRC gene causing Leigh syndrome with epilepsy, a French-Canadian disorder in a Saudi family: case report
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  Argitaratua: (2023-11-01)
• Next-Generation Sequencing Reveals Novel Homozygous Missense Variant c.934T > C in POLR1C Gene Causing Leukodystrophy and Hypomyelinating Disease
  nork: Muhammad Imran Naseer, et al.
  Argitaratua: (2022-05-01)
• Profound intellectual disability caused by homozygous TRAPPC9 pathogenic variant in a man from Malta
  nork: Katelynn M. Wilton, et al.
  Argitaratua: (2020-05-01)
• Whole exome sequencing identified five novel variants in CNTN2, CARS2, ARSA, and CLCN4 leading to epilepsy in consanguineous families
  nork: Angham Abdulrhman Abdulkareem, et al.
  Argitaratua: (2023-06-01)