Associated Papers
A new severe congenital neutropenia syndrome associated with autosomal recessive COPZ1 mutations.
Borbaran Bravo N et al.
Blood, 2025
39642330 (PubMed )
Supplement: BLOOD_BLD-2023-022576-mmc5.xlsx › Tabelle1
Candidate genes and sequence variants for susceptibility to mycobacterial infection identified by whole-exome sequencing.
Varzari A et al.
Frontiers in Genetics, 2022
Common and Rare Sequence Variants Influencing Tumor Biomarkers in Blood.
Olafsson S et al.
Cancer Epidemiology, Biomarkers & Prevention : a Publication of the American Association for Cancer Research, Cosponsored by the American Society of Preventive Oncology, 2020
Exome sequencing and genome-wide copy number variant mapping reveal novel associations with sensorineural hereditary hearing loss.
Haraksingh RR et al.
Bmc Genomics, 2014
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