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Spectrum, frequency, and genotype–phenotype of mutations in SPATA7
PURPOSE: To describe the mutation spectrum of SPATA7 and associated ocular phenotypes. METHODS: As part of a continuing examination of the genetic basis of inherited ophthalmic diseases, sequencing variations in SPATA7 were identified in sequencing data from 5,090 probands. Mutations in SPATA7 were...
| Autores principales: | , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Molecular Vision
2019
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6925664/ https://www.ncbi.nlm.nih.gov/pubmed/31908400 |