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Bi-allelic Variants in METTL5 Cause Autosomal-Recessive Intellectual Disability and Microcephaly
Intellectual disability (ID) is a genetically and clinically heterogeneous disorder, characterized by limited cognitive abilities and impaired adaptive behaviors. In recent years, exome sequencing (ES) has been instrumental in deciphering the genetic etiology of ID. Here, through ES of a large cohor...
Tallennettuna:
| Julkaisussa: | Am J Hum Genet |
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| Päätekijät: | , , , , , , , , , , , , , , , |
| Aineistotyyppi: | Artigo |
| Kieli: | Inglês |
| Julkaistu: |
Elsevier
2019
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| Aiheet: | |
| Linkit: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6817559/ https://ncbi.nlm.nih.gov/pubmed/31564433 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2019.09.007 |
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