Varaico: Literature-Extracted Genetic Variants

Gene:SCNN1D
Variant:p.P79L
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SCNN1D

NM_001130413.4:p.P79L

Associated Papers

Nonsense-associated altered splicing of MAP3K1 in two siblings with 46,XY disorders of sex development.

Igarashi M et al.

Scientific Reports, 2020

33060765 (PubMed )
Supplement: 41598_2020_74405_MOESM1_ESM.pdf

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 › ANKL3
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