Varaico: Literature-Extracted Genetic Variants

Gene:DGKH
Variant:p.T397N
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DGKH

NM_001204505.3:p.T397N

Associated Papers

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

Analysis of high-risk pedigrees identifies 11 candidate variants for Alzheimer's disease.

Teerlink CC et al.

Alzheimer's & Dementia : the Journal of the Alzheimer's Association, 2022

34151536 (PubMed )
Supplement: ALZ-18-307-s002.xlsx › Predicted_Deleterious_Filter

ITPase deficiency causes a Martsolf-like syndrome with a lethal infantile dilated cardiomyopathy.

Handley MT et al.

Plos Genetics, 2019

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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."