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Looking for know cryptic splice sites such as: http://t.co/GvYidrHGX4 But variant incorrectly published MECP2:c.48C>T instead of c.48G>T
Looking for know cryptic splice sites such as: http://t.co/GvYidrHGX4 But variant incorrectly published MECP2:c.48C>T instead of c.48G>T
A synonymous change, p.Gly16Gly in MECP2 Exon 1, causes a cryptic splice event in a Rett Syndrome patient http://t.co/EyTYAI0IJA