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GATA2 deficiency of a novel missense variant with multiorgan inflammation.
Hiroyuki Baba
Naoki Kimura
Hirokazu Kanegane
Fuyuki Miya
Kenjiro Kosaki
Tomohiro Morio
Ryuji Koike
Published in:
Rheumatology (Oxford, England) (2024)
Keyphrases
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oxidative stress
transcription factor
intellectual disability
replacement therapy
autism spectrum disorder