Varaico: Literature-Extracted Genetic Variants

Gene:NUP107
Variant:p.R54Q
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NUP107

NM_020401.4:p.R54Q

Associated Papers

Candidate Genetic Modifiers in Alport Syndrome: A Case Series.

Lujinschi ȘN et al.

Life (basel, Switzerland), 2025

40003707 (PubMed )
Supplement: life-15-00298-s001.zip › life-3339776-supplementary.pdf

Somatic POLE exonuclease domain mutations are early events in sporadic endometrial and colorectal carcinogenesis, determining driver mutational landscape, clonal neoantigen burden and immune response.

Temko D et al.

The Journal of Pathology, 2018

29604063 (PubMed )
Supplement: PATH-245-283-s022.xlsx › CRC.Drivers.Edited

NR5A1 is a novel disease gene for 46,XX testicular and ovotesticular disorders of sex development.

Baetens D et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017

27490115 (PubMed )
Supplement: gim2016118x1.zip › Table_S13-S17.xlsx › Table_S16
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