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Characterization of a novel pathogenic variation c.1237T>G in the FZD4 gene presenting new inheritance from an Iranian individual suffering vitreoretinopathy
Whole Exome Sequencing (WES) has been used increasingly in genetic determination of various known and unknown genetic disorders. Various genes are involved in the development of the vascular network of retina. Assessment of a collection of these genes could be provided by WES. Here we used WES for a...
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| Pubblicato in: | Intractable Rare Dis Res |
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| Autori principali: | , , , , |
| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
International Research and Cooperation Association for Bio & Socio-Sciences Advancement
2020
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| Soggetti: | |
| Accesso online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7062596/ https://ncbi.nlm.nih.gov/pubmed/32201676 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.5582/irdr.2019.01109 |
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