Varaico: Literature-Extracted Genetic Variants

Gene:C8B
Variant:p.T112delFs
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C8B

NM_000066.4:p.T112delFs

Associated Papers

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

The GenomeAsia 100K Project enables genetic discoveries across Asia.

Unknown Author

Nature, 2019

31802016 (PubMed )
Supplement: 41586_2019_1793_MOESM3_ESM.xlsx › S4b_-_Disease_Var

The nuclear background influences the penetrance of the near-homoplasmic m.1630 A > G MELAS variant in a symptomatic proband and asymptomatic mother.

Uittenbogaard M et al.

Molecular Genetics and Metabolism, 2019

A novel mutation in a patient with a deficiency of the eighth component of complement associated with recurrent meningococcal meningitis.

Arnold DF et al.

Journal of Clinical Immunology, 2009

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."