Varaico: Literature-Extracted Genetic Variants

Gene:ASAH1
Variant:p.Y137fs
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ASAH1

NM_177924.5:p.Y137fs

Associated Papers

Farber disease in infancy resembling juvenile idiopathic arthritis: identification of two new mutations and a good early response to allogeneic haematopoietic stem cell transplantation.

Torcoletti M et al.

Rheumatology (oxford, England), 2014

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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."