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6. Early‑onset epilepsy and microcephaly‑capillary malformation syndrome caused by a novel STAMBP mutation in a Chinese boy. Wu F; Dai Y; Wang J; Cheng M; Wang Y; Li X; Yuan P; Liao S; Jiang L; Chen J; Yan L; Zhong M Mol Med Rep; 2019 Dec; 20(6):5145-5151. PubMed ID: 31638258 [TBL] [Abstract][Full Text] [Related]
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12. A novel homozygous missense mutation in the SH3-binding motif of STAMBP causing microcephaly-capillary malformation syndrome. Hori I; Miya F; Negishi Y; Hattori A; Ando N; Boroevich KA; Okamoto N; Kato M; Tsunoda T; Yamasaki M; Kanemura Y; Kosaki K; Saitoh S J Hum Genet; 2018 Sep; 63(9):957-963. PubMed ID: 29907875 [TBL] [Abstract][Full Text] [Related]
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