Varaico: Literature-Extracted Genetic Variants

Gene:LMX1B
Variant:p.K273_M274Splc
Back to variants list

LMX1B

NM_001174147.2:p.K273_M274Splc

Associated Papers

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

Harita Y et al.

European Journal of Human Genetics : Ejhg, 2020

Steroid-resistant nephrotic syndrome as the initial presentation of nail-patella syndrome: a case of a de novo LMX1B mutation.

Nakata T et al.

Bmc Nephrology, 2017

Kidney disease in nail-patella syndrome.

Lemley KV

Pediatric Nephrology (berlin, Germany), 2009

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."