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Missense variants and exon 2 skipping phenomenon. (A) Distribution of missense variants for Type1 and Type2 VHL. Codon 167 in Exon 3 is known as a one of the hotspots of VHL variants. The three coding exons are indicated by boxes. (B) RT-PCR analysis showed the up-regulation of exon 2 skipping splice variants (E1-E3) in one synonymous variant (c.342T>C) and four missense variants (c.351G>T, c.362A>G, c.370A>C, c.463G>T).
