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Identification, Characterization, and Treatment for a Taurine Transporter (SLC6A6) Variant Resulting in Taurine Deficiency and Pathologies in a Consanguineous Family

L. Henry,Muhammad Ansar, Emmanuella Ranza,Madhur Shetty,Sohail Paracha,Maleeha Azam,Ilse Kern,Justyna Iwaszkiewicz,Omer Farooq,Constantin Pournaras,Ariane Malcles,Mateusz Kecik,Waqar Muzaffar,Aziz Qurban,Liaqat Ali,Yacine Aggoun,Federico Santoni,Periklis Makrythanasis,Jawad Ahmed,Raheel Qamar,Carlo Rivolta,Muhammad Sarwar,Stylianos Antonarakis

FASEB JOURNAL（2020）

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