Varaico: Literature-Extracted Genetic Variants

Gene:PLXNC1
Variant:p.K549R
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PLXNC1

NM_005761.3:p.K549R

Associated Papers

Epistatic interactions between mutations of TACI (TNFRSF13B) and TCF3 result in a severe primary immunodeficiency disorder and systemic lupus erythematosus.

Ameratunga R et al.

Clinical & Translational Immunology, 2017

29114388 (PubMed )
Supplement: cti201741x3.pdf

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_S15
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