KEGG   VARIANT: 1600v1
Entry
1600v1                      Variant                                

Name
DAB1 overexpression
Gene
DAB1  DAB adaptor protein 1 [KO:K20054]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 603448
Reference
  Authors
Corral-Juan M, Serrano-Munuera C, Rabano A, Cota-Gonzalez D, Segarra-Roca A, Ispierto L, Cano-Orgaz AT, Adarmes AD, Mendez-Del-Barrio C, Jesus S, Mir P, Volpini V, Alvarez-Ramo R, Sanchez I, Matilla-Duenas A
  Title
Clinical, genetic and neuropathological characterization of spinocerebellar ataxia type 37.
  Journal
Brain 141:1981-1997 (2018)
DOI:10.1093/brain/awy137
Reference
  Authors
Seixas AI, Loureiro JR, Costa C, Ordonez-Ugalde A, Marcelino H, Oliveira CL, Loureiro JL, Dhingra A, Brandao E, Cruz VT, Timoteo A, Quintans B, Rouleau GA, Rizzu P, Carracedo A, Bessa J, Heutink P, Sequeiros J, Sobrido MJ, Coutinho P, Silveira I
  Title
A Pentanucleotide ATTTC Repeat Insertion in the Non-coding Region of DAB1, Mapping to SCA37, Causes Spinocerebellar Ataxia.
  Journal
Am J Hum Genet 101:87-103 (2017)
DOI:10.1016/j.ajhg.2017.06.007
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