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Central Dogma & Molecular Genetics
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Question 1
A patient with epilepsy has a variant at the canonical splice donor site of exon 5 in SCN1A (c.803+1G>A). SpliceAI predicts a high probability of exon 5 skipping. Which functional study would provide definitive evidence of the splicing effect?
A
Western blot of the Nav1.1 protein to assess molecular weight
B
RT-PCR of patient RNA followed by gel electrophoresis and sequencing of the product
C
Repeat genomic DNA sequencing at higher depth to confirm the variant
D
Chromosomal microarray to check for a deletion encompassing exon 5
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