Varaico: Literature-Extracted Genetic Variants

Gene:LMX1B
Variant:p.G117S
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LMX1B

NM_001174147.2:p.G117S

Associated Papers

Focal segmental glomerulosclerosis associated with undescribed mutation in the LMX1B gene.

Martín Gómez MA et al.

European Journal of Medical Genetics, 2024

Steroid-Resistant Nephrotic Syndrome Is Associated With a Unique Genetic Profile in a Highly Admixed Pediatric Population.

Watanabe A et al.

Kidney International Reports, 2024

39698360 (PubMed )
Supplement: mmc1.pdf

Cardiogenetics, neurogenetics, and pathogenetics of left ventricular hypertrabeculation/noncompaction.

Finsterer J

Pediatric Cardiology, 2009

Neuromuscular implications in left ventricular hypertrabeculation/noncompaction.

Finsterer J et al.

International Journal of Cardiology, 2006

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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."