Varaico: Literature-Extracted Genetic Variants

Gene:TEP1
Variant:p.S147C
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TEP1

NM_007110.5:p.S147C

Associated Papers

AA amyloidosis complicating cryopyrin-associated periodic syndrome: a study of 86 cases including 23 French patients and systematic review.

Rodrigues F et al.

Rheumatology (oxford, England), 2022

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."