Varaico: Literature-Extracted Genetic Variants

Gene:EXOSC6
Variant:p.R141H
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EXOSC6

NM_058219.3:p.R141H

Associated Papers

X-linked retinoschisis: mutation spectrum and genotype-phenotype relationship in an Italian pediatric cohort.

Fortunato P et al.

Ophthalmic Genetics, 2023

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."