Varaico: Literature-Extracted Genetic Variants

Gene:CFI
Variant:p.G516V
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CFI

NM_000204.5:p.G516V

Associated Papers

Clinical characterization and identification of rare genetic variants in atypical hemolytic uremic syndrome: A Swedish retrospective observational study.

Åkesson A et al.

Therapeutic Apheresis and Dialysis : Official Peer-reviewed Journal of the International Society for Apheresis, the Japanese Society for Apheresis, the Japanese Society for Dialysis Therapy, 2021

Feeding difficulty is the dominant feature in 12 Chinese newborns with CHD7 pathogenic variants.

Chen X et al.

Bmc Medical Genetics, 2019

31146700 (PubMed )
Supplement: 12881_2019_813_MOESM1_ESM.xls › CHD7_ChenXiang_query_Report_Fil
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