Varaico: Literature-Extracted Genetic Variants

Gene:LMX1B
Variant:p.C142W
Back to variants list

LMX1B

NM_001174147.2:p.C142W

Associated Papers

LMX1B mutations with nails and kneecaps: a new paradigm?

Lemley KV

Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2014

Nail-patella syndrome. Overview on clinical and molecular findings.

Bongers EM et al.

Pediatric Nephrology (berlin, Germany), 2002

LMX1B transactivation and expression in nail-patella syndrome.

Dreyer SD et al.

Human Molecular Genetics, 2000

Restricted distribution of loss-of-function mutations within the LMX1B genes of nail-patella syndrome patients.

Clough MV et al.

Human Mutation, 1999

Mutation analysis of LMX1B gene in nail-patella syndrome patients.

McIntosh I et al.

American Journal of Human Genetics, 1998

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."