F2 c.1015C>G ;(p.R339G)

Variant ID: 11-46748272-C-G

NM_000506.3(F2):c.1015C>G;(p.R339G)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Immune dysregulation, polyendocrinopathy, enteropathy, x-linked syndrome: a paradigm of immunodeficiency with autoimmunity.

Frontiers In Immunology
Barzaghi, Federica F; Passerini, Laura L; Bacchetta, Rosa R
Publication Date: 2012

Variant appearance in text: F2: 1015C>G
PubMed Link: 23060872
Variant Present in the following documents:
  • Main text
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