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CTSZ c.166T>G ;(p.Y56D)
Variant ID: 20-57581518-A-C
NM_001336.3(
CTSZ
):c.166T>G;(p.Y56D)
This variant was identified in 1 publication
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Genomic characterization of lymphomas in patients with inborn errors of immunity.
Blood Advances
Ye, Xiaofei X; Maglione, Paul J PJ; Wehr, Claudia C; Li, Xiaobo X; Wang, Yating Y; Abolhassani, Hassan H; Deripapa, Elena E; Liu, Dongbing D; Borte, Stephan S; Du, Likun L; Wan, Hui H; Plötner, Andreas A; Giannoula, Yvonne Y; Ko, Huai-Bin HB; Hou, Yong Y; Zhu, Shida S; Grossman, Jennifer K JK; Sander, Birgitta B; Grimbacher, Bodo B; Hammarström, Lennart L; Fedorova, Alina A; Rosenzweig, Sergio D SD; Shcherbina, Anna A; Wu, Kui K; Warnatz, Klaus K; Cunningham-Rundles, Charlotte C; Pan-Hammarström, Qiang Q
Publication Date: 2022-09-27
Variant appearance in text: CTSZ: Y56D
PubMed Link:
35687490
Variant Present in the following documents:
advancesADV2021006654-suppl12.xlsx, sheet 1
advancesADV2021006654-suppl4.xlsx, sheet 7
View BVdb publication page