A somatic splice‐site variant in PIK3R1 in a patient with vascular overgrowth and low immunoglobulin levels: A case report
Wilke, Matheus V. M. B., Schimmenti, Lisa, Lopour, Madeline Q. R., Tollefson, Megha M., Klee, Eric W.
Published in Molecular genetics & genomic medicine (01.12.2023)
Published in Molecular genetics & genomic medicine (01.12.2023)
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Journal Article
Identification of AFG3L2 dominant optic atrophy following reanalysis of clinical exome sequencing
Brodsky, Michael C., Olson, Rory J., Asumda, Faizal Z., Lopour, Madeline Q.R., Schimmenti, Lisa A., Klee, Eric W.
Published in American journal of ophthalmology case reports (01.06.2023)
Published in American journal of ophthalmology case reports (01.06.2023)
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Journal Article