Varaico: Literature-Extracted Genetic Variants

Gene:OR5A1
Variant:p.S246L
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OR5A1

NM_001004728.2:p.S246L

Associated Papers

Large-scale whole-exome sequencing analyses identified protein-coding variants associated with immune-mediated diseases in 350,770 adults.

Yang L et al.

Nature Communications, 2024

39009607 (PubMed )
Supplement: 41467_2024_49782_MOESM4_ESM.xlsx › Supplementary_Data_18

Centromeric cohesion failure invokes a conserved choreography of chromosomal mis-segregations in pancreatic neuroendocrine tumor.

Quevedo R et al.

Genome Medicine, 2020

32345369 (PubMed )
Supplement: 13073_2020_730_MOESM5_ESM.xlsx › SD._Exome_SNVs
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