Varaico: Literature-Extracted Genetic Variants

Gene:CDCA7
Variant:p.R304K
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CDCA7

NM_031942.5:p.R304K

Associated Papers

Genetic, Cellular and Clinical Features of ICF Syndrome: a French National Survey.

Sterlin D et al.

Journal of Clinical Immunology, 2016

Mutations in CDCA7 and HELLS cause immunodeficiency-centromeric instability-facial anomalies syndrome.

Thijssen PE et al.

Nature Communications, 2015

26216346 (PubMed )
Supplement: ncomms8870-s1.pdf

The gene mutations and subtelomeric DNA methylation in immunodeficiency, centromeric instability and facial anomalies syndrome.

Hu H et al.

Autoimmunity, 0

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