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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...

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Detalles Bibliográficos
Autores principales: Hassan, Asima, Mir, Yaser R, Kuchay, Raja A H
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer - Medknow 2022
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