Varaico: Literature-Extracted Genetic Variants

Gene:MTX2
Variant:p.E126_L127Splc
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MTX2

NM_006554.5:p.E126_L127Splc

Associated Papers

Mtx2 requirement for craniofacial morphogenesis with implications for mandibuloacral dysplasia.

Yang B et al.

Biochemical and Biophysical Research Communications, 2025

Loss of MTX2 causes mitochondrial dysfunction, podocyte injury, nephrotic proteinuria and glomerulopathy in mice and patients.

Li T et al.

International Journal of Biological Sciences, 2024

Case report: A novel splice-site mutation of MTX2 gene caused mandibuloacral dysplasia progeroid syndrome: the first report from China and literature review.

Fu X et al.

Frontiers in Endocrinology, 2024

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