Varaico: Literature-Extracted Genetic Variants

Gene:DDHD1
Variant:p.G112_S113ins1
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DDHD1

NM_001160148.2:p.G112_S113ins1

Associated Papers

Loss of tissue-type plasminogen activator causes multiple developmental anomalies.

Uguen K et al.

Brain Communications, 2024

39574431 (PubMed )
Supplement: fcae408_supplementary_data.zip › Supplementary_Table_1.xlsx › Supplementary_Table_1

Sequencing of a central nervous system tumor demonstrates cancer transmission in an organ transplant.

Gingras MC et al.

Life Science Alliance, 2021

34301805 (PubMed )
Supplement: LSA-2020-00941_TableS4.xlsx › Table_S4

Genomic profiling reveals heterogeneous populations of ductal carcinoma in situ of the breast.

Nagasawa S et al.

Communications Biology, 2021

33795819 (PubMed )
Supplement: 42003_2021_1959_MOESM5_ESM.xlsx › CaseB

Whole-genome sequencing of Atacama skeleton shows novel mutations linked with dysplasia.

Bhattacharya S et al.

Genome Research, 2018

29567674 (PubMed )
Supplement: supp_gr.223693.117_Supplemental_Table_S8.xls › Indels_Exonic

Renal oncocytoma characterized by the defective complex I of the respiratory chain boosts the synthesis of the ROS scavenger glutathione.

Kürschner G et al.

Oncotarget, 2017

29285300 (PubMed )
Supplement: oncotarget-08-105882-s002.xlsx › nuclear_gene_mutations
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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."