Varaico: Literature-Extracted Genetic Variants

Gene:CTC1
Variant:p.I1005V
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CTC1

NM_025099.6:p.I1005V

Associated Papers

Protein domains provide a new layer of information for classifying human variations in rare diseases.

Corcuff M et al.

Frontiers in Bioinformatics, 2023

36896423 (PubMed )
Supplement: Table1.XLSX › Supplementary_Table_1

A genome-wide meta-analysis yields 46 new loci associating with biomarkers of iron homeostasis.

Bell S et al.

Communications Biology, 2021

33536631 (PubMed )
Supplement: 42003_2020_1575_MOESM4_ESM.xlsx › Supplementary_Data_10

Structural Features of Nucleoprotein CST/Shelterin Complex Involved in the Telomere Maintenance and Its Association with Disease Mutations.

Amir M et al.

Cells, 2020

Whole exome sequencing in three families segregating a pediatric case of sarcoidosis.

Calender A et al.

Bmc Medical Genomics, 2018

29510755 (PubMed )
Supplement: 12920_2018_338_MOESM6_ESM.xlsx › T2
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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."