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Mutations in NSUN2 cause autosomal-recessive intellectual disability.
Am J Hum Genet. 2012 May 4;90(5):847-55. doi: 10.1016/j.ajhg.2012.03.021. Epub 2012 Apr 26.
Am J Hum Genet. 2012.
PMID: 22541559
Free PMC article.
A novel nonsense mutation in TUSC3 is responsible for non-syndromic autosomal recessive mental retardation in a consanguineous Iranian family.
Garshasbi M, Kahrizi K, Hosseini M, Nouri Vahid L, Falah M, Hemmati S, Hu H, Tzschach A, Ropers HH, Najmabadi H, Kuss AW.
Garshasbi M, et al. Among authors: nouri vahid l.
Am J Med Genet A. 2011 Aug;155A(8):1976-80. doi: 10.1002/ajmg.a.34077. Epub 2011 Jul 7.
Am J Med Genet A. 2011.
PMID: 21739581
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