UBA1 c.606T>G ;(p.F202L)

Variant ID: X-47060693-T-G

NM_003334.3(UBA1):c.606T>G;(p.F202L)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Novel causative variants of VEXAS in UBA1 detected through whole genome transcriptome sequencing in a large cohort of hematological malignancies.

Leukemia
Sakuma, Maki M; Blombery, Piers P; Meggendorfer, Manja M; Haferlach, Claudia C; Lindauer, Markus M; Martens, Uwe M UM; Kern, Wolfgang W; Haferlach, Torsten T; Walter, Wencke W
Publication Date: 2023-02-23

Variant appearance in text: UBA1: 606T>G; Phe202Leu
PubMed Link: 36823397
Variant Present in the following documents:
  • 41375_2023_1857_MOESM3_ESM.xlsx, sheet 1
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