Varaico: Literature-Extracted Genetic Variants

Gene:LMX1B
Variant:p.C140Y
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LMX1B

NM_001174147.2:p.C140Y

Associated Papers

Multidisciplinary approach in diagnosis and treatment of Fong disease.

Gecheva NA et al.

Journal of Surgical Case Reports, 2024

Increased symptoms of attention deficit hyperactivity disorder and major depressive disorder symptoms in Nail-patella syndrome: potential association with LMX1B loss-of-function.

López-Arvizu C et al.

American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics, 2011

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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."