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  2. Details for: De novo variants in CNOT3 cause a variable neurodevelopmental disorder.
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De novo variants in CNOT3 cause a variable neurodevelopmental disorder. [electronic resource]

By:
  • Martin, R
Contributor(s):
  • Splitt, M
  • Genevieve, D
  • Aten, E
  • Collins, A
  • de Bie, C I
  • Faivre, L
  • Foulds, N
  • Giltay, J
  • Ibitoye, R
  • Joss, S
  • Kennedy, J
  • Kerr, B
  • Kivuva, E
  • Koopmans, M
  • Newbury-Ecob, R
  • Jean-Marçais, N
  • Peeters, E A J
  • Smithson, S
  • Tomkins, S
  • Tranmauthem, F
  • Piton, A
  • van Haeringen, A
Producer: 20200720Description: 1677-1682 p. digitalISSN:
  • 1476-5438
Subject(s):
  • Amino Acid Sequence
  • Behavior
  • Developmental Disabilities -- genetics
  • Exome
  • Female
  • Genetic Association Studies
  • Genetic Predisposition to Disease -- genetics
  • Genetic Variation
  • Humans
  • Intellectual Disability -- genetics
  • Ireland
  • Learning
  • Male
  • Muscle Hypotonia -- genetics
  • Musculoskeletal Abnormalities -- genetics
  • Mutation, Missense
  • Neurodevelopmental Disorders -- genetics
  • Phenotype
  • Sequence Alignment
  • Transcription Factors -- genetics
  • United Kingdom
  • Exome Sequencing
Online resources:
  • Available from publisher's website
In: European journal of human genetics : EJHG vol. 27
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Publication Type: Journal Article; Research Support, Non-U.S. Gov't

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De novo variants in CNOT3 cause a variable neurodevelopmental disorder.

APA

Martin R., Splitt M., Genevieve D., Aten E., Collins A., de Bie C. I., Faivre L., Foulds N., Giltay J., Ibitoye R., Joss S., Kennedy J., Kerr B., Kivuva E., Koopmans M., Newbury-Ecob R., Jean-Marçais N., Peeters E. A. J., Smithson S., Tomkins S., Tranmauthem F., Piton A. & van Haeringen A. (20200720). De novo variants in CNOT3 cause a variable neurodevelopmental disorder. : European journal of human genetics : EJHG.

Chicago

Martin R, Splitt M, Genevieve D, Aten E, Collins A, de Bie C I, Faivre L, Foulds N, Giltay J, Ibitoye R, Joss S, Kennedy J, Kerr B, Kivuva E, Koopmans M, Newbury-Ecob R, Jean-Marçais N, Peeters E A J, Smithson S, Tomkins S, Tranmauthem F, Piton A and van Haeringen A. 20200720. De novo variants in CNOT3 cause a variable neurodevelopmental disorder. : European journal of human genetics : EJHG.

Harvard

Martin R., Splitt M., Genevieve D., Aten E., Collins A., de Bie C. I., Faivre L., Foulds N., Giltay J., Ibitoye R., Joss S., Kennedy J., Kerr B., Kivuva E., Koopmans M., Newbury-Ecob R., Jean-Marçais N., Peeters E. A. J., Smithson S., Tomkins S., Tranmauthem F., Piton A. and van Haeringen A. (20200720). De novo variants in CNOT3 cause a variable neurodevelopmental disorder. : European journal of human genetics : EJHG.

MLA

Martin R, Splitt M, Genevieve D, Aten E, Collins A, de Bie C I, Faivre L, Foulds N, Giltay J, Ibitoye R, Joss S, Kennedy J, Kerr B, Kivuva E, Koopmans M, Newbury-Ecob R, Jean-Marçais N, Peeters E A J, Smithson S, Tomkins S, Tranmauthem F, Piton A and van Haeringen A. De novo variants in CNOT3 cause a variable neurodevelopmental disorder. : European journal of human genetics : EJHG. 20200720.

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