Varaico: Literature-Extracted Genetic Variants

Gene:LAGE3
Variant:p.F63Splc
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LAGE3

NM_006014.5:p.F63Splc

Associated Papers

Two brothers presented with rare clinical characteristics with a novel LAGE3 variant: a case report and literature review.

Wei J et al.

Bmc Pediatrics, 2025

Phenotype, genotype, and clinical outcome of Taiwanese with congenital nephrotic syndrome.

Tseng MH et al.

Journal of the Formosan Medical Association = Taiwan Yi Zhi, 2024

Diagnosis delay a family of Galloway-Mowat Syndrome caused by a classical splicing mutation of Lage3.

Chen Y et al.

Bmc Nephrology, 2023

Novel LAGE3 Pathogenic Variants Combined with TRPC6 and NUP160 Variants in Galloway-Mowat Syndrome: A Case Report.

Huang L et al.

Case Reports in Nephrology and Dialysis, 0

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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."