Varaico: Literature-Extracted Genetic Variants

Gene:DHTKD1
Variant:p.A210S
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DHTKD1

NM_018706.7:p.A210S

Associated Papers

Heterozygous DHTKD1 Variants in Two European Cohorts of Amyotrophic Lateral Sclerosis Patients.

Osmanovic A et al.

Genes, 2021

Integrated analysis of metabolomic profiling and exome data supplements sequence variant interpretation, classification, and diagnosis.

Alaimo JT et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020

32439973 (PubMed )
Supplement: NIHMS1603460-supplement-Supplemental_Data.xlsx › Supplementary_Table_2

Genetic heterogeneity of motor neuropathies.

Bansagi B et al.

Neurology, 2017

Targeted Sequencing Reveals Low-Frequency Variants in EPHA Genes as Markers of Paclitaxel-Induced Peripheral Neuropathy.

Apellániz-Ruiz M et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2017

The eSNV-detect: a computational system to identify expressed single nucleotide variants from transcriptome sequencing data.

Tang X et al.

Nucleic Acids Research, 2014

25352556 (PubMed )
Supplement: supp_gku1005_nar-01266-met-n-2014-File012.xlsx › TCGA-A8-A06P-01A.domain
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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."