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    A biallelic loss‐of‐function PDIA6 variant in a second patient with polycystic kidney disease, infancy‐onset diabetes, and microcephaly

    A biallelic loss‐of‐function PDIA6 variant in a second patient with polycystic kidney disease, infancy‐onset diabetes, and microcephaly von De Franco, Elisa, Wakeling, Matthew N., Frew, Russel D., Russ‐Silsby, James, Peters, Catherine, Marks, Stephen D., Hattersley, Andrew T., Flanagan, Sarah E.

    Veröffentlicht in Clinical genetics

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  2. 2
    A biallelic loss-of-function PDIA6 variant in a second patient with polycystic kidney disease, infancy-onset diabetes, and microcephaly

    A biallelic loss-of-function PDIA6 variant in a second patient with polycystic kidney disease, infancy-onset diabetes, and microcephaly von De Franco, Elisa, Wakeling, Matthew N, Frew, Russel D, Russ-Silsby, James, Peters, Catherine, Marks, Stephen D, Hattersley, Andrew T, Flanagan, Sarah E

    Veröffentlicht in Clinical genetics

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