Varaico: Literature-Extracted Genetic Variants

Gene:LMX1B
Variant:p.R249Q
Back to variants list

LMX1B

NM_001174147.2:p.R249Q

Associated Papers

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

LMX1B-associated nephropathy that showed myelin figures on electron microscopy.

Shimohata H et al.

Cen Case Reports, 2021

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

Dysregulation of WTI (-KTS) is Associated with the Kidney-Specific Effects of the LMX1B R246Q Mutation.

Hall G et al.

Scientific Reports, 2017

A novel LMX1B mutation in a family with end-stage renal disease of 'unknown cause'.

Edwards N et al.

Clinical Kidney Journal, 2015

[The strategies of genetic diagnosis for hereditary nephrotic syndrome].

Qiu H et al.

Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2014

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."