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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:LONP1

Variant:p.W464fs

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LONP1

NM_004793.4:p.W464fs

hg38:chr19:5700903 C>CN

Associated Papers

A novel mutation in the proteolytic domain of LONP1 causes atypical CODAS syndrome.

Inui T et al.

Journal of Human Genetics, 2017

28148925 (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."