Varaico: Literature-Extracted Genetic Variants

Gene:EXT1
Variant:p.L181fs
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EXT1

NM_000127.3:p.L181fs

Associated Papers

Biallelic ADPRHL2 mutations in complex neuropathy affect ADP ribosylation and DNA damage response.

Beijer D et al.

Life Science Alliance, 2021

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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."