POLE c.1181_1182del ;(p.Q394Rfs*29)

Variant ID: 12-133252028-CCT-C

NM_006231.2(POLE):c.1181_1182del;(p.Q394Rfs*29)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Primary immunodeficiency-related genes in neonatal intensive care unit patients with various genetic immune abnormalities: a multicentre study in China.

Clinical & Translational Immunology
Zhu, Tianwen T; Gong, Xiaohui X; Bei, Fei F; Ma, Li L; Sun, Jingjing J; Wang, Jian J; Qiu, Gang G; Sun, Jianhua J; Sun, Yu Y; Zhang, Yongjun Y
Publication Date: 2021

Variant appearance in text: POLE: 1181_1182del
PubMed Link: 33777394
Variant Present in the following documents:
  • Main text
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