Varaico: Literature-Extracted Genetic Variants

Gene:LMX1B
Variant:p.A278V
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LMX1B

NM_001174147.2:p.A278V

Associated Papers

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

Clinical and genetic characterization of nephropathy in patients with nail-patella syndrome.

Harita Y et al.

European Journal of Human Genetics : Ejhg, 2020

LMX1B-Associated Nephropathy With Type III Collagen Deposition in the Glomerular and Tubular Basement Membranes.

Andeen NK et al.

American Journal of Kidney Diseases : the Official Journal of the National Kidney Foundation, 2018

Spectrum of LMX1B mutations: from nail-patella syndrome to isolated nephropathy.

Harita Y et al.

Pediatric Nephrology (berlin, Germany), 2017

Human Urine-Derived Renal Progenitors for Personalized Modeling of Genetic Kidney Disorders.

Lazzeri E et al.

Journal of the American Society of Nephrology : Jasn, 2015

Heterogeneous genetic alterations in sporadic nephrotic syndrome associate with resistance to immunosuppression.

Giglio S et al.

Journal of the American Society of Nephrology : Jasn, 2015

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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."