12881_2019_922_MOESM1_ESM.docx (2.76 MB)
MOESM1 of Identification of a compound heterozygote in LYST gene: a case report on Chediak-Higashi syndrome
journal contribution
posted on 2020-01-07, 04:38 authored by Yinsen Song, Zhengping Dong, Shuying Luo, Junmei Yang, Yuebing Lu, Bo Gao, Tianli FanAdditional 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.