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cms3billion
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cms3billion
Sookjin Lee
8월 16, 2024
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저자 (Author)
3billion Inc.
8월 16, 2024
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저자 (Author)
3billion Author
ADGRG1-related polymicrogyria syndrome: report on a large consanguineous family with a novel variant and review
8월 1, 2024
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논문 (Publication)
A homozygous nonsense variant in the alternatively spliced VLDLR exon 4 causes a neurodevelopmental disorder without features of VLDLR cerebellar hypoplasia
8월 1, 2024
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Explicable prioritization of genetic variants by integration of rule-based and machine learning algorithms for diagnosis of rare Mendelian disorders
7월 22, 2024
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논문 (Publication)
20240708-banner-ko
7월 7, 2024
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배너
7월 13일(토) 오후 2시 ~ 오후 5시 (3시간) 동안 점검 진행으로 포탈 서비스 운영이 일시중지됩니다.
Diagnostic performance of automated streamlined, daily updated, exome analysis in patients with delayed development
7월 2, 2024
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cms3billion
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논문 (Publication)
Disease-causing variant recommendation system for clinical genome interpretation with adjusted scores for artefactual variants
7월 2, 2024
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cms3billion
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논문 (Publication)
Improving genetic diagnosis by disease‑specifc, ACMG/AMP variant interpretation guidelines for hearing loss
7월 2, 2024
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cms3billion
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논문 (Publication)
Powerful use of automated prioritization of candidate variants in genetic hearing loss with extreme etiologic heterogeneity
7월 2, 2024
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cms3billion
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