MUC16 c.1639_1641delinsTGG ;(p.R547W)

Variant ID: 19-9090174-TCT-CCA

NM_024690.2(MUC16):c.1639_1641delinsTGG;(p.R547W)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Analysis of the genetic basis of periodic fever with aphthous stomatitis, pharyngitis, and cervical adenitis (PFAPA) syndrome.

Scientific Reports
Di Gioia, Silvio Alessandro SA; Bedoni, Nicola N; von Scheven-Gête, Annette A; Vanoni, Federica F; Superti-Furga, Andrea A; Hofer, Michaël M; Rivolta, Carlo C
Publication Date: 2015-05-19

Variant appearance in text: MUC16: R547W
PubMed Link: 25988833
Variant Present in the following documents:
  • Main text
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