Varaico: Literature-Extracted Genetic Variants

Gene:OSGEP
Variant:p.G122A
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OSGEP

NM_017807.4:p.G122A

Associated Papers

Galloway-mowat syndrome 3 (GAMOS3): a novel disease-causing variant in OSGEP gene and expansion of the clinical spectrum.

Yari A et al.

Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2025

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