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Sandestig A, Green A, Jonasson J, et al. Could Dissimilar Phenotypic Effects of . Mol Syndromol. 2018;9(5):259-265doi: 10.1159/000492267.
Sandestig, A., Green, A., Jonasson, J., Vogt, H., Wahlström, J., Pepler, A., Ellnebo, K., Biskup, S., & Stefanova, M. (2019). Could Dissimilar Phenotypic Effects of . Molecular syndromology, 9(5), 259-265. https://doi.org/10.1159/000492267
Sandestig, Anna, et al. "Could Dissimilar Phenotypic Effects of ." Molecular syndromology vol. 9,5 (2019): 259-265. doi: https://doi.org/10.1159/000492267
Sandestig A, Green A, Jonasson J, Vogt H, Wahlström J, Pepler A, Ellnebo K, Biskup S, Stefanova M. Could Dissimilar Phenotypic Effects of . Mol Syndromol. 2019 Jan;9(5):259-265. doi: 10.1159/000492267. Epub 2018 Aug 09. PMID: 30733661; PMCID: PMC6362929.
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Mol Syndromol. 2019 Jan;9(5):259-265. doi: 10.1159/000492267. Epub 2018 Aug 09.

Could Dissimilar Phenotypic Effects of .

Molecular syndromology

Anna Sandestig, Anna Green, Jon Jonasson, Hartmut Vogt, Johan Wahlström, Alexander Pepler, Katarina Ellnebo, Saskia Biskup, Margarita Stefanova

Affiliations

  1. Department of Clinical Genetics, Linköping University Hospital, Linköping, Sweden.
  2. Department of Pediatrics, Linköping University Hospital, Linköping, Sweden.
  3. Department of CeGaT GmbH, Tübingen, Germany.

PMID: 30733661 PMCID: PMC6362929 DOI: 10.1159/000492267

Abstract

The beta-actin gene encodes 1 of 6 different actin proteins. De novo heterozygous missense mutations in

Keywords: ACTB gene; Actin; Baraitser-Winter syndrome; Missense mutation; Protein conformational change; Residue position

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