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All inquiries, additions to the list, and comments should be made to Bill Copeland.
Amino Acid Substitution: Q45R
cDNA Position: 134 a→g (exon 2)
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Disease | Genetics | Frequency | Reference |
Epilepsy | Found in trans w/ D136E | <0.5% in Dutch population | (Blok and van den Bosch et al., 2009) PubMed |