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Title: Hypomorphic mutations in TRNT1 cause retinitis pigmentosa with erythrocytic microcytosis
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Human Molecular Genetics [0964-6906] De-Luca, A P yr:2015


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1. Protasova, Maria S. "Whole-genome sequencing identifies a novel ABCB7 gene mutation for X-linked congenital cerebellar ataxia in a large family of Mongolian ancestry." European Journal of Human Genetics : EJHG 24.4 (2015): 550-555. Link to Full Text for this item Link to SFX for this item
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