Varaico: Literature-Extracted Genetic Variants

Gene:LAGE3
Variant:p.V106Splc
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LAGE3

NM_006014.5:p.V106Splc

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

Diagnostic Utility of Exome Sequencing Among Israeli Children With Kidney Failure.

Ben-Moshe Y et al.

Kidney International Reports, 2023

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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