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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ASAH1

Variant:p.Q362E

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ASAH1

NM_004315.6:p.Q362E

hg38:chr8:18059346 G>C

Associated Papers

Molecular analysis of acid ceramidase deficiency in patients with Farber disease.

Bär J et al.

Human Mutation, 2001

11241842 (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."