Varaico: Literature-Extracted Genetic Variants

Gene:GOLGA5
Variant:p.S129S
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GOLGA5

NM_005113.4:p.S129S

Associated Papers

Whole exome sequencing in Finnish families identifies new candidate genes for osteoarthritis.

Skarp S et al.

Plos One, 2018

30157244 (PubMed )
Supplement: pone.0203313.s001.xlsx › Family12_SNPs

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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