A biallelic loss‐of‐function PDIA6 variant in a second patient with polycystic kidney disease, infancy‐onset diabetes, and microcephaly
Journal article published in 2022 by
Elisa De Franco 
,
Matthew N. Wakeling ,
Russel D. Frew,
James Russ‐Silsby ,
Catherine Peters,
Stephen D. Marks ,
Andrew T. Hattersley ,
Sarah E. Flanagan
,
Matthew N. Wakeling ,
Russel D. Frew,
James Russ‐Silsby ,
Catherine Peters,
Stephen D. Marks ,
Andrew T. Hattersley ,
Sarah E. Flanagan
This paper is made freely available by the publisher.
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