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| Title : Exonic duplication CNV of NDRG1 associated with autosomal-recessive HMSN-Lom\/CMT4D - Okamoto_2014_Genet.Med_16_386 |
| Author(s) : Okamoto Y , Goksungur MT , Pehlivan D , Beck CR , Gonzaga-Jauregui C , Muzny DM , Atik MM , Carvalho CM , Matur Z , Bayraktar S , Boone PM , Akyuz K , Gibbs RA , Battaloglu E , Parman Y , Lupski JR |
| Ref : Genet Med , 16 :386 , 2014 |
| Abstract : Okamoto_2014_Genet.Med_16_386 |
| ESTHER : Okamoto_2014_Genet.Med_16_386 |
| PubMedSearch : Okamoto_2014_Genet.Med_16_386 |
| PubMedID: 24136616 |
| Gene_locus related to this paper: human-NDRG1 |
| Title : Phenotypic spectrum and genotype-phenotype correlations of NRXN1 exon deletions - Schaaf_2012_Eur.J.Hum.Genet_20_1240 |
| Author(s) : Schaaf CP , Boone PM , Sampath S , Williams C , Bader PI , Mueller JM , Shchelochkov OA , Brown CW , Crawford HP , Phalen JA , Tartaglia NR , Evans P , Campbell WM , Tsai AC , Parsley L , Grayson SW , Scheuerle A , Luzzi CD , Thomas SK , Eng PA , Kang SH , Patel A , Stankiewicz P , Cheung SW |
| Ref : Eur J Hum Genet , 20 :1240 , 2012 |
| Abstract : Schaaf_2012_Eur.J.Hum.Genet_20_1240 |
| ESTHER : Schaaf_2012_Eur.J.Hum.Genet_20_1240 |
| PubMedSearch : Schaaf_2012_Eur.J.Hum.Genet_20_1240 |
| PubMedID: 22617343 |