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The MED13L Haploinsufficiency Syndrome Associated with De Novo Nonsense Variant (P.GLN1981*)
The Mediator complex subunit 13-like is a part of the large Mediator complex. Recently, a large number of patients were diagnosed with mutations in this gene, which makes it one of the most frequent causes of syndromic intellectual disability. In this work, we report a patient with a novel de novo l...
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| 發表在: | J Mother Child |
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| Main Authors: | , , , , , , , , , , , , , , , , |
| 格式: | Artigo |
| 語言: | Inglês |
| 出版: |
Sciendo
2021
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| 主題: | |
| 在線閱讀: | https://ncbi.nlm.nih.gov/pmc/articles/PMC8258838/ https://ncbi.nlm.nih.gov/pubmed/33930262 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.34763/jmotherandchild.20202403.2021.d-20-00003 |
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