상세 보기
자료 필터
자료유형
발행연도
2004 ~ 2025
2004 2025
키워드
언어
전체 109건 중 31번부터 40번까지의 결과를 표시합니다.
2021
Article
Author Correction: The mutational constraint spectrum quantified from variation in 141,456 humans (Nature, (2020), 581, 7809, (434-443), 10.1038/s41586-020-2308-7)
- Karczewski, Konrad J. ;
- Francioli, Laurent C. ;
- Tiao, Grace ;
- Cummings, Beryl B. ;
- Alföldi, Jessica ;
- ... Kim, Bong-Jo ;
- ... Kim, Young Jin ;
- 외 166명
- 2021-02
- Nature
- Nature Research
Article
Author Correction: The effect of LRRK2 loss-of-function variants in humans (Nature Medicine, (2020), 26, 6, (869-877), 10.1038/s41591-020-0893-5)
- Whiffin, Nicola ;
- Armean, Irina M. ;
- Kleinman, Aaron ;
- Marshall, Jamie L. ;
- Minikel, Eric V. ;
- ... Kim, Bong-Jo ;
- ... Kim, Young Jin ;
- 외 199명
- 2021-02
- Nature Medicine
- Nature Research
Article
Author Correction: Transcript expression-aware annotation improves rare variant interpretation (Nature, (2020), 581, 7809, (452-458), 10.1038/s41586-020-2329-2)
- Cummings, Beryl B. ;
- Karczewski, Konrad J. ;
- Kosmicki, Jack A. ;
- Seaby, Eleanor G. ;
- Watts, Nicholas A. ;
- ... Kim, Bong-Jo ;
- ... Kim, Young Jin ;
- 외 157명
- 2021-02
- Nature
- Nature Research
Article
Author Correction: A structural variation reference for medical and population genetics (Nature, (2020), 581, 7809, (444-451), 10.1038/s41586-020-2287-8)
- Collins, Ryan L. ;
- Brand, Harrison ;
- Karczewski, Konrad J. ;
- Zhao, Xuefang ;
- Alföldi, Jessica ;
- ... Kim, Bong-Jo ;
- ... Kim, Young Jin ;
- 외 178명
- 2021-02
- Nature
- Nature Research
2020
Article
Landscape of multi-nucleotide variants in 125,748 human exomes and 15,708 genomes
- Wang, Qingbo ;
- Pierce-Hoffman, Emma ;
- Cummings, Beryl B. ;
- Alföldi, Jessica ;
- Francioli, Laurent C. ;
- ... Kim, Bong-Jo ;
- ... Kim, Young Jin ;
- 외 152명
- 2020-12
- Nature Communications
- Nature Research
Article
Characterising the loss-of-function impact of 5’ untranslated region variants in 15,708 individuals
- Whiffin, Nicola ;
- Karczewski, Konrad J. ;
- Zhang, Xiaolei ;
- Chothani, Sonia ;
- Smith, Miriam J. ;
- ... Kim, Bong-Jo ;
- ... Kim, Young Jin ;
- 외 161명
- 2020-12
- Nature Communications
- Nature Research