Additional file 2: Table S2. of A homozygous missense variant in HSD17B4 identified in a consanguineous Chinese Han family with type II Perrault syndrome
Year: 2017
Type: dataset
Abstract: List of Variants in the proband. 29 variants were left after screening by the variants frequencies and synonymous status. (XLSX 26Â kb)
Source: Figshare
Authors: Chen, Kui, Yang, Ke, Su-Shan Luo, Chen, Chen, Wang, Ying, Wang, Yi-Xuan, Li, Da-Ke, Yang, Yu-Jie, Tang, Yi-Lin, Feng-Tao Liu, Wang, Jian, Wu, Jian-Jun, Sun, Yi-Min
Language: English
Topic: Genomics and Rare Diseases
Subfield: Genetics
Domain: Life Sciences
Open Access status: green
OpenAlex ID: W4394495803