Varaico: Literature-Extracted Genetic Variants

Gene:LMX1B
Variant:p.P219A
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LMX1B

NM_001174147.2:p.P219A

Associated Papers

Clinicopathological characteristics and cyclosporine-responsive proteinuria in nail-patella syndrome with a novel LMX1B mutation.

Jiang L et al.

Pediatric Nephrology (berlin, Germany), 2025

Importance of family history and health checkup for school-aged children for type IV collagen-associated nephropathy in hereditary kidney disease.

Kawamoto R et al.

Journal of Nephrology, 2025

40753325 (PubMed )
Supplement: 40620_2025_2355_MOESM1_ESM.docx

Case report: A novel R246L mutation in the LMX1B homeodomain causes isolated nephropathy in a large Chinese family.

Li X et al.

Medicine, 2024

A Novel Mutation in LMX1B (p.Pro219Ala) Causes Focal Segmental Glomerulosclerosis with Alport Syndrome-like Phenotype.

Oe Y et al.

Internal Medicine (tokyo, Japan), 2021

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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."