HP c.155G>A ;(p.C52Y)

Variant ID: 16-72090495-G-A

NM_005143.3(HP):c.155G>A;(p.C52Y)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Clinical Features at Onset and Genetic Characterization of Pediatric and Adult Patients with TNF-α Receptor-Associated Periodic Syndrome (TRAPS): A Series of 80 Cases from the AIDA Network.

Mediators Of Inflammation
Gaggiano, Carla C; Vitale, Antonio A; Obici, Laura L; Merlini, Giampaolo G; Soriano, Alessandra A; Viapiana, Ombretta O; Cattalini, Marco M; Maggio, Maria Cristina MC; Lopalco, Giuseppe G; Montin, Davide D; Jaber, Masen Abdel MA; Dagna, Lorenzo L; Manna, Raffaele R; Insalaco, Antonella A; Piga, Matteo M; La Torre, Francesco F; Berlengiero, Virginia V; Gelardi, Viviana V; Ciarcia, Luisa L; Emmi, Giacomo G; Ruscitti, Piero P; Caso, Francesco F; Cimaz, Rolando R; Hernández-Rodríguez, José J; Parronchi, Paola P; Sicignano, Ludovico Luca LL; Verrecchia, Elena E; Iannone, Florenzo F; Sota, Jurgen J; Grosso, Salvatore S; Salvarani, Carlo C; Frediani, Bruno B; Giacomelli, Roberto R; Mencarelli, Maria Antonietta MA; Renieri, Alessandra A; Rigante, Donato D; Cantarini, Luca L
Publication Date: 2020

Variant appearance in text: HP: C52Y
PubMed Link: 32831641
Variant Present in the following documents:
  • Main text
  • MI2020-8562485.pdf
View BVdb publication page