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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:LOXL2

Variant:p.Q216fs

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LOXL2

NM_002318.3:p.Q216fs

hg38:chr8:23341089 CTG>N

Associated Papers

Two novel mutations in the LOR gene in three families with loricrin keratoderma.

Hotz A et al.

The British Journal of Dermatology, 2015

25234742 (PubMed )

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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."