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Dreyfus, Pascale Gaussem, Arnold Munnich and Valérie ... · Family 1 c.1463T>C p.Leu488Pro Family 2 c.248T>C p.Leu83Pro Family 3 c.1444G>T p.Gly482Trp Family 4 c.1238G>A p.Arg413Glu
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