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SaveGenotype-phenotype correlations in specific granule deficiency: loss of DNA-binding ability and impaired nuclear localization cause severe manifestations due to the c.655_665del CEBPE variant
Tamaru, Tomoya; Katayama, Rina; Momokino, Juna; Maruoka, Yume; Ueda, Atsushi; Kanegane, Hirokazu; Wada, Taizo; Bukhari, Syed Tariq Ahmad; Banday, Aaqib Zaffar; Akagi, Tadayuki
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