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HSPA9 frameshift and loss-of-function mutations in a patient manifesting syndromic sideroblastic anemia and congenital anomalies.
Atsuko Watanabe
Tohru Fujiwara
Atsuhiko Ohta
Yuki Shimizu
Ryuhei Tanaka
Published in:
Pediatric blood & cancer (2022)
Keyphrases
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case report
intellectual disability
chronic kidney disease
heat shock protein
autism spectrum disorder