Varaico: Literature-Extracted Genetic Variants

Gene:ZNF469
Variant:p.E935K
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ZNF469

NM_001367624.2:p.E935K

Associated Papers

Polymorphisms in mitochondrial ribosomal protein S5 (MRPS5) are associated with leprosy risk in Chinese.

Xing Y et al.

Plos Neglected Tropical Diseases, 2020

33362202 (PubMed )
Supplement: pntd.0008883.s010.xlsx › S9-rare_variants_in_8_families

Identification of seven novel ZNF469 mutations in keratoconus patients in a Han Chinese population.

Yu X et al.

Molecular Vision, 2017

Brittle cornea syndrome ZNF469 mutation carrier phenotype and segregation analysis of rare ZNF469 variants in familial keratoconus.

Davidson AE et al.

Investigative Ophthalmology & Visual Science, 2015

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."