Varaico: Literature-Extracted Genetic Variants

Gene:RRP7A
Variant:p.R272Q
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RRP7A

NM_015703.5:p.R272Q

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

Aggressive natural killer-cell leukemia mutational landscape and drug profiling highlight JAK-STAT signaling as therapeutic target.

Dufva O et al.

Nature Communications, 2018

29674644 (PubMed )
Supplement: 41467_2018_3987_MOESM5_ESM.xlsx › ANKL1
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