Four potentially pathogenic variants detected in this study.

<p>The black arrow represents the patient. WT: Wild type; MT: Mutation. From left to right: pedigree plots of variants, sequences from affected individual with identified variant, sequences from wild type, clinical information regarding the segregation of the identified variants within the fam...

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Bibliografski detalji
Glavni autor:	Yang Liu (4829) (author)
Daljnji autori:	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)
Izdano:	2025
Teme:	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 %)
Oznake:	Dodaj oznaku Bez oznaka, Budi prvi tko označuje ovaj zapis!

Four potentially pathogenic variants detected in this study.

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