Location of the potentially pathogenic variants in TNFRSF21, CPSF1, ZNF644 and SLC39A5.

Exons of human TNFRSF21, CPSF1, ZNF644 and SLC39A5(upper),and positions of variants corresponding to the protein model with functional domains highlighted(under).We identified four heterozygous variants in this study. The Gln267Glu in CPSF1<...

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প্রধান লেখক:	Yang Liu (4829) (author)
অন্যান্য লেখক:	Shao-Chi Zhang (22208534) (author), Wen Zhang (7555) (author), Zhong-Qi Xue (10696971) (author), Yi-Xuan Qin (22208537) (author), Shun-Yu Piao (10696963) (author), Wen-Jing Li (435085) (author), Meng-Li Ji (22208540) (author), Wen-Juan Zhuang (10696973) (author)
প্রকাশিত:	2025
বিষয়গুলি:	Biophysics Biochemistry Microbiology Cell Biology Genetics Molecular Biology Evolutionary Biology Developmental Biology Cancer Infectious Diseases Virology Chemical Sciences not elsewhere classified causing genes associated onset high myopia 18 candidate genes xlink "> variants xlink "> causative genes nonsyndromic myopia 18 disease znf644 </ znf644 ,</ variants observed tyr1089cys variant slc39a5 </ sanger sequencing mutation taster missense variants gnomad databases findings support exome sequencing allele frequencies 83 probands 8 %)
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Location of the potentially pathogenic variants in <i>TNFRSF21, CPSF1, ZNF644</i> and <i>SLC39A5.</i>

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