Question: Intronic VUS variant
gravatar for Fatemeh Nabizadeh
10 days ago by
Fatemeh Nabizadeh10 wrote:


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?

intron vus • 87 views
ADD COMMENTlink written 10 days ago by Fatemeh Nabizadeh10
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