10.6084/m9.figshare.c.3860482_D2.v1 Kui Chen Kui Chen Ke Yang Ke Yang Su-Shan Luo Su-Shan Luo Chen Chen Chen Chen Ying Wang Ying Wang Yi-Xuan Wang Yi-Xuan Wang Da-Ke Li Da-Ke Li Yu-Jie Yang Yu-Jie Yang Yi-Lin Tang Yi-Lin Tang Feng-Tao Liu Feng-Tao Liu Jian Wang Jian Wang Jian-Jun Wu Jian-Jun Wu Yi-Min Sun Yi-Min Sun Additional file 2: Table S2. of A homozygous missense variant in HSD17B4 identified in a consanguineous Chinese Han family with type II Perrault syndrome Springer Nature 2017 Perrault syndrome HSD17B4 Variant Neurological features Ovarian dysgenesis Sensorineural deafness 2017-08-23 05:00:00 Dataset https://springernature.figshare.com/articles/dataset/Additional_file_2_Table_S2_of_A_homozygous_missense_variant_in_HSD17B4_identified_in_a_consanguineous_Chinese_Han_family_with_type_II_Perrault_syndrome/5335174 List of Variants in the proband. 29 variants were left after screening by the variants frequencies and synonymous status. (XLSX 26 kb)