Varaico: Literature-Extracted Genetic Variants

Gene:SS18L1
Variant:p.S175delFs
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SS18L1

NM_198935.3:p.S175delFs

Associated Papers

Dutch patients with glycogen storage disease type II show common ancestry for the 525delT and del exon 18 mutations.

Ausems MG et al.

Journal of Medical Genetics, 2001

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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."