Heterozygous missense variant in EIF6 gene: A novel form of Shwachman–Diamond syndrome?
Koh, Ai Ling, Bonnard, Carine, Lim, Jiin Ying, Liew, Woei Kang, Thoon, Koh Cheng, Thomas, Terrence, Ali, Nur Ain Binte, Ng, Alvin Yu Jin, Tohari, Sumanty, Phua, Kong Boo, Venkatesh, Byrappa, Reversade, Bruno, Jamuar, Saumya Shekhar
Published in American journal of medical genetics. Part A (01.09.2020)
Published in American journal of medical genetics. Part A (01.09.2020)
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