Candidate variants from whole-exome sequencing were validated by Sanger sequencing. Along with this validation process, segregation analyses were performed on the family members. Primer3 v0.4.0, a web-based tool, was used to designed primers for amplification and sequencing [24]. Sequencing reactions were performed using Applied Biosystems 3130 DNA Analyzer (Life Technologies, Carlsbad, CA, USA).
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