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T Cell Repertoire Abnormality in Immunodeficiency Patients with DNA Repair and Methylation Defects
UploadT‐cell receptor repertoire data provides new evidence for hygiene hypothesis of allergic diseases
UploadMolecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy
Download from www.nature.comSMYD1 is the underlying gene for the AnWj-negative blood group phenotype
UploadA rare variant in the FHL1 gene associated with X-linked recessive hypoparathyroidism
Download from doi.orgHomozygousGNALmutation associated with familial childhood-onset generalized dystonia
Download from doi.orgLYRM7mutations cause a multifocal cavitating leukoencephalopathy with distinct MRI appearance
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