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Haploinsufficiency as a disease mechanism in GNB1-associated neurodevelopmental disorder

Academic Article
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Overview

authors

  • Schultz-Rogers, L.
  • Masuho, I.
  • Vairo, F. P. E.
  • Schmitz, C. T.
  • Schwab, T. L.
  • Clark, K. J.
  • Gunderson, L.
  • Pichurin, P. N.
  • Wierenga, K.
  • Martemyanov, Kirill
  • Klee, E. W.

publication date

  • September 12, 2020

journal

  • Molecular Genetics & Genomic Medicine  Journal

subject areas

  • Child
  • Child, Preschool
  • Developmental Disabilities
  • Female
  • GTP-Binding Protein beta Subunits
  • HEK293 Cells
  • Haploinsufficiency
  • Humans
  • Intellectual Disability
  • Loss of Function Mutation
  • Male
  • Mutation, Missense
  • RNA Splicing
  • Seizures
  • Signal Transduction
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Identity

PubMed Central ID

  • PMC7667315

International Standard Serial Number (ISSN)

  • 2324-9269

Digital Object Identifier (DOI)

  • 10.1002/mgg3.1477

PubMed ID

  • 32918542
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Additional Document Info

volume

  • 8

issue

  • 11

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