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    1. Two siblings with a novel nonsense mutation, p.R50X, in the vitamin D receptor gene Endocrine · 2011 · 8 citations
    2. Genetics Springer eBooks · 2014
    3. Two New Unrelated Cases of Hereditary 1,25-Dihydroxyvitamin D-resistant Rickets with Alopecia resulting from the same Novel Nonsense Mutation in the Vitamin D Receptor Gene Journal of Pediatric Endocrinology and Metabolism · 2010 · 36 citations
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