Efficient detection of somatic <i>UBA1</i> variants and clinical scoring system predicting patients with variants in VEXAS syndrome - Concepedia

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Efficient detection of somatic <i>UBA1</i> variants and clinical scoring system predicting patients with variants in VEXAS syndrome

34

Citations

12

References

2023

Year

Ayaka Maeda, Naomi Tsuchida, Yuri Uchiyama, Nobuyuki Horita, Satoshi Kobayashi, Mitsumasa Kishimoto, Daisuke Kobayashi, Haruki Matsumoto, Tomoyuki Asano, Kiyoshi Migita,

Abstract

Genetic screening with the combination of regular PCR and PNA-PCR detected somatic UBA1 variants with high sensitivity and specificity. Our scoring system could efficiently predict patients with UBA1 variants.

References

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