present in Gene: SBF2-AS1;SBF2
present in Chromosome: 11
Position on Chromosome: 9807999
Alleles of this Variant: C/T
rs1564872328 in
SBF2-AS1;SBF2 gene and
Charcot-Marie-Tooth disease type 4
PMID 12687498 2003 Mutations in MTMR13, a new pseudophosphatase homologue of MTMR2 and Sbf1, in two families with an autosomal recessive demyelinating form of Charcot-Marie-Tooth disease associated with early-onset glaucoma.
PMID 15477569 2004 A new SBF2 mutation in a family with recessive demyelinating Charcot-Marie-Tooth (CMT4B2).
PMID 25873783 2014 Charcot-Marie-Tooth 4B2 caused by a novel mutation in the MTMR13/SBF2 gene in two related Portuguese families.