Varaico: Literature-Extracted Genetic Variants

Gene:LOXL3
Variant:p.A277fs
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LOXL3

NM_032603.5:p.A277fs

Associated Papers

The Genetic Confirmation and Clinical Characterization of LOXL3-Associated MYP28: A Common Type of Recessive Extreme High Myopia.

Jiang Y et al.

Investigative Ophthalmology & Visual Science, 2023

36917121 (PubMed )
Supplement: iovs-64-3-24_s006.xlsx › S3a-genotype

Exploiting the Autozygome to Support Previously Published Mendelian Gene-Disease Associations: An Update.

Maddirevula S et al.

Frontiers in Genetics, 2020

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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."