Entering edit mode
3.4 years ago
Fatemeh Nabizadeh
▴
10
Hello!
In a deaf sibling, we have found an intronic homozygote VUS variant (a point mutation), which is more than 100 bases away from the gene's splice sites. (NGS results have been confirmed by sanger sequencing) How can we support the pathogenicity of this variant in silico ?
