Varaico: Literature-Extracted Genetic Variants

Gene:HLA-DRB1
Variant:p.C11C
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HLA-DRB1

NM_002124.4:p.C11C

Associated Papers

Identification of Genetic Variants for Diabetic Retinopathy Risk Applying Exome Sequencing in Extreme Phenotypes.

Zenteno JC et al.

Biomed Research International, 2024

High throughput single cell long-read sequencing analyses of same-cell genotypes and phenotypes in human tumors.

Shiau CK et al.

Nature Communications, 2023

37433798 (PubMed )
Supplement: 41467_2023_39813_MOESM3_ESM.zip › Supplementary_Data › Supplementary_Data9_Myeloid_cell_expanded_mutations.xlsx › Supplemental_Data_9

Genomic, transcriptomic, and metabolomic profiles of hiPSC-derived dopamine neurons from clinically discordant brothers with identical PRKN deletions.

Cukier HN et al.

Npj Parkinson's Disease, 2022

35768426 (PubMed )
Supplement: 41531_2022_346_MOESM4_ESM.xlsx › Sheet1

RET c.1901G>A and Novel SLC12A3 Mutations in Familial Pheochromocytomas

Zhao L et al.

Genes, 2022

35627249 (PubMed )
Supplement: genes-13-00864-s001.zip › Supplementary_Material_S2.The_information_of_annotated_gene_mutations2.xlsx › ___

Case report: Two unique nonsense mutations in HTRA1-related cerebral small vessel disease in a Chinese population and literature review.

Chen W et al.

Frontiers in Neurology, 2022

36619910 (PubMed )
Supplement: Data_Sheet_6.ZIP › case2-C › 3.________ › CA2275B________.____Exonic_Variants.xlsx › sheet1
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