CYBB c.1078_1080delinsAA ;(p.D360Nfs*26)

Variant ID: X-37663310-GAC-AA

NM_000397.3(CYBB):c.1078_1080delinsAA;(p.D360Nfs*26)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Flow Cytometry for the Diagnosis of Primary Immunodeficiency Diseases: A Single Center Experience.

Allergy, Asthma & Immunology Research
Kwon, Won Kyung WK; Choi, SooIn S; Kim, Hee Jin HJ; Huh, Hee Jae HJ; Kang, Ji Man JM; Kim, Yae Jean YJ; Yoo, Keon Hee KH; Ahn, Kangmo K; Cho, Hye Kyung HK; Peck, Kyong Ran KR; Jang, Ja Hyun JH; Ki, Chang Seok CS; Kang, Eun Suk ES
Publication Date: 2020-03

Variant appearance in text: CYBB: 1078_1080delinsAA
PubMed Link: 32009323
Variant Present in the following documents:
  • Main text
  • aair-12-292.pdf
View BVdb publication page



Rapid determination of chimerism status using dihydrorhodamine assay in a patient with X-linked chronic granulomatous disease following hematopoietic stem cell transplantation.

Annals Of Laboratory Medicine
Kim, Hyun-Young HY; Kim, Hee-Jin HJ; Ki, Chang-Seok CS; Kim, Dae Won DW; Yoo, Keon Hee KH; Kang, Eun-Suk ES
Publication Date: 2013-07

Variant appearance in text: CYBB: 1078_1080delGACinsAA
PubMed Link: 23826567
Variant Present in the following documents:
  • Main text
  • alm-33-288.pdf
View BVdb publication page