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Pathogenic STX3 variants affecting the retinal and intestin..:

Janecke, Andreas R ; Liu, Xiaoqin ; Adam, Rüdiger...
Janecke , A R , Liu , X , Adam , R , Punuru , S , Viestenz , A , Strauß , V , Laass , M , Sanchez , E , Adachi , R , Schatz , M P , Saboo , U S , Mittal , N , Rohrschneider , K , Escher , J , Ganesh , A , Al Zuhaibi , S , Al Murshedi , F , AlSaleem , B , Alfadhel , M , Al Sinani , S , Alkuraya , F S , Huber , L A , Müller , T , Heidelberger , R & Janz , R 2021 , ' Pathogenic STX3 variants affecting the retinal and intestinal transcripts cause an early-onset severe retinal dystrophy in microvillus inclusion disease subjects ' , Human Genetics , vol. 140 , no. 8 , pp. 1143-1156 . https://doi.org/10.1007/s00439-021-02284-1.  , 2021