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Loss of function of SVBP leads to autosomal recessive intellectual disability, microcephaly, ataxia, and hypotonia

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Year: 2019
Type: article
Source: Genetics in Medicine
DOI: 10.1038/s41436-018-0415-8
Authors: Zafar Iqbal, Hasan Tawamie, Wei Ba, André Reis, Bassam Al Halak, Heinrich Sticht, Steffen Uebe, Nael Nadif Kasri, Sheikh Riazuddin, Hans van Bokhoven, Rami Abou Jamra
Institutions: Oslo University Hospital, Radboud University Nijmegen, Radboud University Medical Center, Donders Institute for Brain, Cognition and Behaviour, Friedrich-Alexander-Universität Erlangen-Nürnberg, University Hospital Leipzig, Leipzig University, Allama Iqbal Medical College, University of Health Sciences Lahore, Shaheed Zulfiqar Ali Bhutto Medical University, Islamabad, Pakistan Institute of Medical Sciences
Language: English

Topic: Genetics and Neurodevelopmental Disorders
Subfield: Genetics
Field: Biochemistry, Genetics and Molecular Biology
Domain: Life Sciences
SDG: Good health and well-being

Open Access status: bronze

Funders: European Commission, Deutscher Akademischer Austauschdienst, Deutsche Forschungsgemeinschaft
Awards: G3359163574, G7827414376, G7874890541, Genetic and Epigenetic Networks in Cognitive Dysfunction
OpenAlex ID: W2906816026
FWCI: 2.701
Cites: 27
Cited by: 36
Related to: 10
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