COL4A5 c.1079dup ;(p.N360Kfs*51)

Variant ID: X-107829888-G-GA

NM_033380.2(COL4A5):c.1079dup;(p.N360Kfs*51)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Diagnosing MonoMAC Syndrome in GATA2 Germline Mutated Myelodysplastic Syndrome via Next-Generation Sequencing in a Patient with Refractory and Complex Infection: Case Report and Literature Review.

Infection And Drug Resistance
Shen, Yingying Y; Li, Yuzhu Y; Li, Hangchao H; Liu, Qi Q; Dong, Huijie H; Wang, Bo B; Ye, Baodong B; Lin, Shenyun S; Shen, Yiping Y; Wu, Dijiong D
Publication Date: 2021

Variant appearance in text: ATS: 1077_1078insA
PubMed Link: 33854343
Variant Present in the following documents:
  • idr-14-1311.pdf
View BVdb publication page