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algorithm body » algorithm goa (Expand Search), algorithm aoa (Expand Search)
body function » cost function (Expand Search)
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Cohen syndrome and early-onset epileptic encephalopathy in male triplets: two disease-causing mutations in VPS13B and NAPB
Published 2023“…Sanger sequencing verified the segregation of the two recessive gene variants with the phenotype in family members. The prediction algorithms support the pathogenicity of these variants. …”