Associated Papers
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Supplement: 12887_2024_4553_MOESM1_ESM.xlsx › trio.hg38.filter
TREC/KREC Newborn Screening followed by Next-Generation Sequencing for Severe Combined Immunodeficiency in Japan.
Wakamatsu M et al.
Journal of Clinical Immunology, 2022
The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.
Cao Y et al.
Cell Research, 2020
32355288 (PubMed )
Supplement: 41422_2020_322_MOESM14_ESM.xlsx › S7
Reticular dysgenesis: international survey on clinical presentation, transplantation, and outcome.
Hoenig M et al.
Blood, 2017
Reticular dysgenesis (aleukocytosis) is caused by mutations in the gene encoding mitochondrial adenylate kinase 2.
Pannicke U et al.
Nature Genetics, 2009
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