Varaico: Literature-Extracted Genetic Variants

Gene:LMX1B
Variant:p.G213R
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LMX1B

NM_001174147.2:p.G213R

Associated Papers

A spectrum of LMX1B mutations in Nail-Patella syndrome: new point mutations, deletion, and evidence of mosaicism in unaffected parents.

Marini M et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2010

Genotype-phenotype studies in nail-patella syndrome show that LMX1B mutation location is involved in the risk of developing nephropathy.

Bongers EM et al.

European Journal of Human Genetics : Ejhg, 2005

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

McIntosh I et al.

American Journal of Human Genetics, 1998

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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."