Condition: Low CSF 5-methyltetrahydrofolate
rs1555889162
in
KCNB1;LOC105372649
gene and
Low CSF 5-methyltetrahydrofolate
PMID 28252636
2017 The Exome Clinic and the role of medical genetics expertise in the interpretation of exome sequencing results.
PMID 29264397
2017 Clinical features and outcome of 6 new patients carrying de novo
KCNB1
gene mutations.