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Journal: Genes, 2023
Volume: 14
Number: 1193
Article:
A Carrier Female Manifesting an Unusual X-Linked Retinoschisis Phenotype Associated with the Pathogenic Variant c.266delA, p.(Tyr89LeufsTer37) in RS1, and Skewed X-Inactivation
Authors:
by
Jennifer Kirkby, Stephanie Halford, Morag Shanks, Anthony Moore, Anthony Gait, Lucy Jenkins, Penny Clouston, Chetan K. Patel and Susan M. Downes
Link:
https://www.mdpi.com/2073-4425/14/6/1193
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