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disease: Mental retardation-hypotonic facies syndrome X-linked, 1

id5503
nameMental retardation-hypotonic facies syndrome X-linked, 1
variant-disease NM_000489.5(ATRX):c.2150C>T (p.Pro717Leu) AND Mental retardation-hypotonic facies syndrome X-linked, 1
NM_000489.5(ATRX):c.5377A>C (p.Thr1793Pro) AND Mental retardation-hypotonic facies syndrome X-linked, 1
NM_000489.5(ATRX):c.3535G>A (p.Val1179Ile) AND Mental retardation-hypotonic facies syndrome X-linked, 1
NM_000489.5(ATRX):c.109C>T (p.Arg37Ter) AND Mental retardation-hypotonic facies syndrome X-linked, 1
NM_000489.5(ATRX):c.6254G>T (p.Arg2085Leu) AND Mental retardation-hypotonic facies syndrome X-linked, 1
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