Varaico: Literature-Extracted Genetic Variants

Gene:ADAMTSL4
Variant:p.R647fs
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ADAMTSL4

NM_019032.6:p.R647fs

Associated Papers

Biallelic ADAMTSL4 variants in a Chinese cohort of congenital ectopia lentis: Implications for genotype-phenotype relationships.

Chen ZX et al.

Human Mutation, 2022

NGS panel analysis in 24 ectopia lentis patients; a clinically relevant test with a high diagnostic yield.

Overwater E et al.

European Journal of Medical Genetics, 2017

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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."