Publications:

Rare missense variants in the ALPK1 gene may predispose to periodic fever, aphthous stomatitis, pharyngitis and adenitis (PFAPA) syndrome.

European Journal Of Human Genetics : Ejhg

Sangiorgi, Eugenio E; Azzarà, Alessia A; Molinario, Clelia C; Pietrobono, Roberta R; Rigante, Donato D; Verrecchia, Elena E; Sicignano, Ludovico Luca LL; Genuardi, Maurizio M; Gurrieri, Fiorella F; Manna, Raffaele R

Publication Date: 2019-09

Variant appearance in text: TLR4: 22G>A

PubMed Link: 31053777

Variant Present in the following documents:

• Main text

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Whole-exon sequencing of human myeloma cell lines shows mutations related to myeloma patients at relapse with major hits in the DNA regulation and repair pathways.

Journal Of Hematology & Oncology

Tessoulin, Benoît B; Moreau-Aubry, Agnès A; Descamps, Géraldine G; Gomez-Bougie, Patricia P; Maïga, Sophie S; Gaignard, Alban A; Chiron, David D; Ménoret, Emmanuelle E; Le Gouill, Steven S; Moreau, Philippe P; Amiot, Martine M; Pellat-Deceunynck, Catherine C

Publication Date: 2018-12-13

Variant appearance in text: TLR4: Ala8Thr

PubMed Link: 30545397

Variant Present in the following documents:

• 13045_2018_679_MOESM2_ESM.xlsx, sheet 1

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