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disease: Gaze palsy, familial horizontal, with progressive scoliosis

id5182
nameGaze palsy, familial horizontal, with progressive scoliosis
variant-disease NM_022370.3(ROBO3):c.1366G>T (p.Gly456Ter) AND Gaze palsy, familial horizontal, with progressive scoliosis
NM_022370.4(ROBO3):c.2073+1G>A AND Gaze palsy, familial horizontal, with progressive scoliosis
NM_022370.4(ROBO3):c.1886_1887del (p.Val629Alafs) AND Gaze palsy, familial horizontal, with progressive scoliosis
NM_022370.3(ROBO3):c.*67C>T AND Gaze palsy, familial horizontal, with progressive scoliosis
NM_022370.3(ROBO3):c.2183G>A (p.Ser728Asn) AND Gaze palsy, familial horizontal, with progressive scoliosis
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