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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ASAH1

Variant:p.E363_N364Splc

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ASAH1

NM_004315.6:p.E363_N364Splc

hg38:chr8:18059340 C>G

Associated Papers

C26-Ceramide as highly sensitive biomarker for the diagnosis of Farber Disease.

Cozma C et al.

Scientific Reports, 2017

28733637 (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."