A deep intronic splice variant of the col4a5 gene in a chinese family with x-linked alport syndrome

HIGHLIGHTS

• who: Pei Qian and colleagues from the (UNIVERSITY) have published the Article: A deep intronic splice variant of the COL4A5 gene in a Chinese family with X-linked Alport syndrome, in the Journal: (JOURNAL)
• what: The authors reported a heterozygous deep intronic variant of the COL4A5 gene (c.385-716G > A) through WGS, and this variant could not have been detected using WES alone. The particular form of competitive splicing pattern that the authors detected in this study has been reported in other studies, with previous findings confirming the presence of both wild-type and . . .
  

   

  

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