Varaico: Literature-Extracted Genetic Variants

Gene:ITGAD
Variant:p.A986V
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ITGAD

NM_005353.3:p.A986V

Associated Papers

Case Report: A Novel Pathomechanism in PEComa by the Loss of Heterozygosity of TP53.

Butz H et al.

Frontiers in Oncology, 2022

35419288 (PubMed )
Supplement: Table_1.xlsx › exome_variants_MAF_0.01

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_S13
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