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Endosomal trafficking defects in patient cells with KIAA1109 biallelic variants
The uncharacterized gene KIAA1109 has recently been associated with a congenital neurological malformation disorder that variably presents with arthrogryposis, craniofacial and/or cardiac abnormalities. We have identified two additional patients with compound heterozygous KIAA1109 variants presentin...
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| Publicado no: | Genes Dis |
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| Main Authors: | , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Chongqing Medical University
2019
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6411657/ https://ncbi.nlm.nih.gov/pubmed/30906834 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.gendis.2018.12.004 |
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