SNP information rs121912707
Normal allele: CC
ALDH7A1 gene mutation can lead to pyridoxine-dependent epilepsy.
Polymorphism rs121912707 is related to topics like this:
If seizures are caused by a known or presumed genetic defect or issue related to epilepsy, it is...
Research and publications:
16159904 Epidemiology of pyridoxine dependent seizures in the Netherlands.
16491085 Mutations in antiquitin in individuals with pyridoxine-dependent seizures.
17721876 An intriguing "silent" mutation and a founder effect in antiquitin (ALDH7A1).
25326637 Clinical exome sequencing for genetic identification of rare Mendelian disorders.
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