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Novel HIVEP2 Variant p.Q1248* is Associated with Developmental Delay: A Case Report
In this report, we describe a 5-year-old boy with global developmental delay who presented for medical genetic evaluation. We performed whole exome sequencing that revealed the involvement of a heterogenous variant p.Gln1248Ter (CAG > TAG): c.3742 C > T inherited de novo in exon 5 of HIVEP2 (h...
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| Publicado no: | J Pediatr Genet |
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| Main Authors: | , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Georg Thieme Verlag KG
2019
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| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6688883/ https://ncbi.nlm.nih.gov/pubmed/31406623 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1055/s-0039-1683973 |
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