Varaico: Literature-Extracted Genetic Variants

Gene:CDC42BPB
Variant:p.R518C
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CDC42BPB

NM_006035.4:p.R518C

Associated Papers

EBV+ nodal T/NK-cell lymphoma associated with clonal hematopoiesis and structural variations of the viral genome.

Kato S et al.

Blood Advances, 2024

38429084 (PubMed )
Supplement: BLOODA_ADV-2023-012019-mmc1.pdf

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
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