Condition: Slurred speech
rs151344517
in
LOC107985154;AFG3L2;TUBB6
gene and
Slurred speech
PMID 20725928
2010 Missense mutations in the AFG3L2 proteolytic domain account for ∼1.5% of European autosomal dominant cerebellar ataxias.
rs139455627
in
TSPEAR
gene and
Slurred speech
PMID 27736875
2016 Mutations in TSPEAR, Encoding a Regulator of Notch Signaling, Affect Tooth and Hair Follicle Morphogenesis.
rs1569151872
in
TSPEAR-AS1;TSPEAR
gene and
Slurred speech
PMID 27736875
2016 Mutations in TSPEAR, Encoding a Regulator of Notch Signaling, Affect Tooth and Hair Follicle Morphogenesis.