Varaico: Literature-Extracted Genetic Variants

Gene:DCLRE1C
Variant:p.Y214N
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DCLRE1C

NM_001033855.3:p.Y214N

Associated Papers

Application of whole genome and RNA sequencing to investigate the genomic landscape of common variable immunodeficiency disorders.

van Schouwenburg PA et al.

Clinical Immunology (orlando, Fla.), 2015

De novo mutations in moderate or severe intellectual disability.

Hamdan FF et al.

Plos Genetics, 2014

25356899 (PubMed )
Supplement: pgen.1004772.s004.xlsx › 1439.518
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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."