Varaico: Literature-Extracted Genetic Variants

Gene:ADAMTSL4
Variant:p.L249delFs
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ADAMTSL4

NM_019032.6:p.L249delFs

Associated Papers

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

Disruption of murine Adamtsl4 results in zonular fiber detachment from the lens and in retinal pigment epithelium dedifferentiation.

Collin GB et al.

Human Molecular Genetics, 2015

ADAMTSL4-associated isolated ectopia lentis: Further patients, novel mutations and a detailed phenotype description.

Neuhann TM et al.

American Journal of Medical Genetics. Part A, 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."