Varaico: Literature-Extracted Genetic Variants

Gene:NLRP12
Variant:p.L353P
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NLRP12

NM_144687.4:p.L353P

Associated Papers

A clinical update on inflammasomopathies.

Sönmez HE et al.

International Immunology, 2017

Clinical utility gene card for: prototypic hereditary recurrent fever syndromes (monogenic autoinflammatory syndromes).

Witsch-Baumgartner M et al.

European Journal of Human Genetics : Ejhg, 2015

[Cryopyrine-associated periodic syndrome: CAPS seen from adulthood].

Koné-Paut I

La Revue De Medecine Interne, 2015

The labyrinth of autoinflammatory disorders: a snapshot on the activity of a third-level center in Italy.

Cantarini L et al.

Clinical Rheumatology, 2015

Working the endless puzzle of hereditary autoinflammatory disorders.

Caso F et al.

Modern Rheumatology, 2014

Genetics of monogenic autoinflammatory diseases: past successes, future challenges.

Aksentijevich I et al.

Nature Reviews. Rheumatology, 2011

Fine structure mapping of CIAS1: identification of an ancestral haplotype and a common FCAS mutation, L353P.

Hoffman HM et al.

Human Genetics, 2003

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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."