Varaico: Literature-Extracted Genetic Variants

Gene:HLA-DQA1
Variant:p.M99V
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HLA-DQA1

NM_002122.5:p.M99V

Associated Papers

Genetic variants in patients with multiple arterial aneurysms.

Körfer D et al.

Langenbeck's Archives of Surgery, 2024

39382597 (PubMed )
Supplement: 423_2024_3488_MOESM2_ESM.xlsx › Supplemental_Table_2

Molecular characterization of sub-frontal recurrent medulloblastomas reveals potential clinical relevance.

Chen Z et al.

Frontiers in Neurology, 2023

37181548 (PubMed )
Supplement: Data_Sheet_2.xlsx › Germline_mutation-case_2

Familial Temperature-Sensitive Auditory Neuropathy: Distinctive Clinical Courses Caused by Variants of the OTOF Gene.

Zhu YM et al.

Frontiers in Cell and Developmental Biology, 2021

34692690 (PubMed )
Supplement: Table_2.xlsx › Supplementary_Table_7

Bi-allelic GAD1 variants cause a neonatal onset syndromic developmental and epileptic encephalopathy.

Chatron N et al.

Brain : a Journal of Neurology, 2020

32282878 (PubMed )
Supplement: awaa085_supplementary_data.zip › awaa085-suppl_data › brain-2019-01328-File007.pdf

NIPS, a 3D network-integrated predictor of deleterious protein SAPs, and its application in cancer prognosis.

Wang B et al.

Scientific Reports, 2018

HLA class II sequence variants influence tuberculosis risk in populations of European ancestry.

Sveinbjornsson G et al.

Nature Genetics, 2016

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-A2-A04Y-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."