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Items: 3

  • The following term was not found in PubMed: ss-of-function.
1.

Novel HIVEP2 Variants in Patients with Intellectual Disability.

Park J, Colombo R, Schäferhoff K, Janiri L, Grimmel M, Sturm M, Grasshoff U, Dufke A, Haack TB, Kehrer M.

Mol Syndromol. 2019 Jul;10(4):195-201. doi: 10.1159/000499060. Epub 2019 Apr 3.

2.

Expanding the phenotype of intellectual disability caused by HIVEP2 variants.

Goldsmith H, Wells A, Sá MJN, Williams M, Heussler H, Buckman M, Pfundt R, de Vries BBA, Goel H.

Am J Med Genet A. 2019 Sep;179(9):1872-1877. doi: 10.1002/ajmg.a.61271. Epub 2019 Jun 17.

PMID:
31207095
3.

Loss-of-function variants in HIVEP2 are a cause of intellectual disability.

Srivastava S, Engels H, Schanze I, Cremer K, Wieland T, Menzel M, Schubach M, Biskup S, Kreiß M, Endele S, Strom TM, Wieczorek D, Zenker M, Gupta S, Cohen J, Zink AM, Naidu S.

Eur J Hum Genet. 2016 Apr;24(4):556-61. doi: 10.1038/ejhg.2015.151. Epub 2015 Jul 8.

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