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A Novel Variant in VPS13B Underlying Cohen Syndrome
Pathogenic variants in vacuolar protein sorting 13 homolog B (VPS13B) cause Cohen syndrome (CS), a clinically diverse neurodevelopmental disorder. We used whole exome and Sanger sequencing to identify disease-causing variants in a Pakistani family with intellectual disability, microcephaly, facial d...
Autores principales: | Hussain, Abrar, Acharya, Anushree, Bharadwaj, Thashi, Genomics, University Of Washington Center For Mendelian, Leal, Suzanne M., Khaliq, Abdul, Mir, Asif, Schrauwen, Isabelle |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Hindawi
2023
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10115529/ https://www.ncbi.nlm.nih.gov/pubmed/37090188 http://dx.doi.org/10.1155/2023/9993801 |
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