Varaico: Literature-Extracted Genetic Variants

Gene:COLGALT2
Variant:p.Q385L
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COLGALT2

NM_015101.4:p.Q385L

Associated Papers

Molecular Genetic Characteristics of FANCI, a Proposed New Ovarian Cancer Predisposing Gene.

Fierheller CT et al.

Genes, 2023

36833203 (PubMed )
Supplement: genes-14-00277-s001.zip › 09.11.22_Supplementary_tables_v9.xlsx › 3

Whole-Exome Sequencing Revealed New Candidate Genes for Human Dilated Cardiomyopathy.

D'Agostino Y et al.

Diagnostics (basel, Switzerland), 2022

36292100 (PubMed )
Supplement: diagnostics-12-02411-s001.zip › Supplementary_table_S3.xlsx › Foglio1

Case Report: A Novel Pathomechanism in PEComa by the Loss of Heterozygosity of TP53.

Butz H et al.

Frontiers in Oncology, 2022

35419288 (PubMed )
Supplement: Table_1.xlsx › exome_variants_MAF_0.01

iPSC modeling of severe aplastic anemia reveals impaired differentiation and telomere shortening in blood progenitors.

Melguizo-Sanchis D et al.

Cell Death & Disease, 2018

29374141 (PubMed )
Supplement: 41419_2017_141_MOESM8_ESM.xlsx › SAA3_Deleterious_Hits
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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."