Varaico: Literature-Extracted Genetic Variants

Gene:LMX1B
Variant:p.A233insFs
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LMX1B

NM_001174147.2:p.A233insFs

Associated Papers

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

Bongers EM et al.

Pediatric Nephrology (berlin, Germany), 2002

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

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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."