KEGG   VARIANT: 4131v1
Entry
4131v1                      Variant                                
Name
MAP1B mutation
Type
Loss of function
Gene
MAP1B  microtubule associated protein 1B [KO:K10429]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 157129
Network
nt06541  Cytoskeleton in neurons
Disease
H00270  Periventricular nodular heterotopia
H00604  Deafness, autosomal dominant
Reference
  Authors
Heinzen EL, O'Neill AC, Zhu X, Allen AS, Bahlo M, Chelly J, Chen MH, Dobyns WB, Freytag S, Guerrini R, Leventer RJ, Poduri A, Robertson SP, Walsh CA, Zhang M
  Title
De novo and inherited private variants in MAP1B in periventricular nodular heterotopia.
  Journal
PLoS Genet 14:e1007281 (2018)
DOI:10.1371/journal.pgen.1007281
Reference
  Authors
Cui L, Zheng J, Zhao Q, Chen JR, Liu H, Peng G, Wu Y, Chen C, He Q, Shi H, Yin S, Friedman RA, Chen Y, Guan MX
  Title
Mutations of MAP1B encoding a microtubule-associated phosphoprotein cause sensorineural hearing loss.
  Journal
JCI Insight 5:136046 (2020)
DOI:10.1172/jci.insight.136046
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