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The variants of ARPC1B described in the literature are displayed, with the red-highlighted variant indicating the one identified in our patient. (B) The variant identified in our patient is located in a region that is highly conserved across species.

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Gamze Sonmez, Baris Ulum, Ates Kutay Tenekeci, Canan Caka, Ali Şahin, Alp Kazancıoğlu, Begum Ozbek, İsmail Yaz, Saliha Esenboğa, Deniz Çağdaş

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