Browsing by Author Yadav, Ruchi

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Issue DateTitleAuthor(s)
Jan-2012A mild form of SLC29A3 disorder: a frameshift deletion leads to the paradoxical translation of an otherwise noncoding mRNA splice variantBolze, Alexandre; Abhyankar, Avinas; Grant, Audrey V.; Patel, Bhavi; Yadav, Ruchi; Byun, Minji; Caillez, Daniel; Emile, Jean-François; Pastor Anglada, Marçal; Abel, Laurent; Puel, Anne; Govindarajan, Rajgopal; Pontual, Loic de; Casanova, Jean-Laurent