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MOESM1 of Identification of a compound heterozygote in LYST gene: a case report on Chediak-Higashi syndrome

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posted on 2020-01-07, 04:38 authored by Yinsen Song, Zhengping Dong, Shuying Luo, Junmei Yang, Yuebing Lu, Bo Gao, Tianli Fan
Additional file 1: Functional prediction of mutations performed by HSF 3.1, including the novel missense LYST:c.5719A > G, the known SNP rs201382097 (LYST:c.4863-4G > A), and two mutations in adjacent sites of rs201382097, which referred to LYST:c.4863-3 T > A and LYST:c.4863-5 T > A.

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