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Ocular findings and genomics of X-linked recessive disorders: A review
Advent of new sequencing technologies and modern diagnostic procedures has opened the door for a deeper understanding of disorders about which little was known previously. Discovery of novel genes, new genetic variants in previously known genes and better techniques of functional validation has imme...
Autores principales: | , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Wolters Kluwer - Medknow
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9426149/ https://www.ncbi.nlm.nih.gov/pubmed/35791118 http://dx.doi.org/10.4103/ijo.IJO_252_22 |