Varaico: Literature-Extracted Genetic Variants

Gene:CTDP1
Variant:p.W407R
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CTDP1

NM_004715.5:p.W407R

Associated Papers

Pathogenic variants in KPTN gene identified by clinical whole-genome sequencing.

Thiffault I et al.

Cold Spring Harbor Molecular Case Studies, 2020

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

26122175 (PubMed )
Supplement: NIHMS64345-supplement-Supplementary_tables.xlsx › Table_S15
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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."