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자료 필터
자료유형
발행연도
2014 ~ 2026
2014 2026
키워드
언어
전체 77건 중 11번부터 20번까지의 결과를 표시합니다.
2025
Conference
Functional Characterization of VUS Missense Variants Using Integrated In-silco Approaches
- 2025-06-12
Conference
LLM-Based Variant Interpretation Pipeline: Application to the PS3 Criterion for MYH7 Variants
- 2025-06-12
Article
Mutations in NEK1 cause ciliary dysfunction as a novel pathogenic mechanism in amyotrophic lateral sclerosis
- Noh, Min-Young ;
- Oh, Seong-il ;
- Kim, Young-Eun ;
- Cha, Sun Joo ;
- Sung, Wonjae ;
- ... Oh, Ki-Wook ;
- ... Kim, Seung Hyun ;
- 외 4명
- 2025-05
- Molecular Neurodegeneration
- BMC
Conference
Clinical interpretation of WGS data : focusing on non-coding variant, splicing variant and structural variant
- 2025-04-24
Article
Semantic variant primary progressive aphasia with ANXA11 p.D40G
- Lee, Sun Min ;
- Yoon, Soo Jin ;
- Park, Kyung Won ;
- Kim, Ahro ;
- Kim, Hee Jin ;
- ... Kim, Young-Eun ;
- 외 5명
- 2025-03
- Alzheimer’s & Dementia
- WILEY
2024