Varaico: Literature-Extracted Genetic Variants

Gene:VPS28
Variant:p.I147F
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VPS28

NM_016208.4:p.I147F

Associated Papers

New mutations of CIAS1 that are responsible for Muckle-Wells syndrome and familial cold urticaria: a novel mutation underlies both syndromes.

Dodé C et al.

American Journal of Human Genetics, 2002

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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."