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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SKIC2

Variant:p.G235R

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SKIC2

NM_006929.5:p.G235R

hg38:chr6:31961300 G>C

Associated Papers

Atypical presentation of infantile-onset farber disease with novel ASAH1 mutations.

Kim SY et al.

American Journal of Medical Genetics. Part A, 2016

27411168 (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."