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 26Â kb)