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Nature
|
February 4, 2021
Author Correction: The mutational constraint spectrum quantified from variation in 141,456 humans
Konrad J Karczewski, Laurent C Francioli, Grace Tiao, et al.
Nature
|
August 10, 2021
Addendum: The mutational constraint spectrum quantified from variation in 141,456 humans
Sanna Gudmundsson, Konrad J Karczewski, Laurent C Francioli, et al.
American Journal of Human Genetics
|
January 28, 2021
De novo TRIM8 variants impair its protein localization to nuclear bodies and cause developmental delay, epilepsy, and focal segmental glomerulosclerosis
Patricia L Weng, Amar J Majmundar, Kamal Khan, et al.
Nature
|
August 19, 2016
Analysis of protein-coding genetic variation in 60,706 humans
Monkol Lek, Konrad J Karczewski, Eric V Minikel, et al.
Medrxiv : the Preprint Server for Health Sciences
|
July 3, 2026
Structural variant discovery and diagnostic impact in rare diseases from short-read and long-read sequencing
Alba Sanchis-Juan, Yulia Mostovoy, Sarah L Stenton, et al.
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Showing results (11-20 of 15) with videos related to
Sort By:
Page
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This site can display upto 15 results.
Nature
|
February 4, 2021
Author Correction: The mutational constraint spectrum quantified from variation in 141,456 humans
Konrad J Karczewski, Laurent C Francioli, Grace Tiao, et al.
Nature
|
August 10, 2021
Addendum: The mutational constraint spectrum quantified from variation in 141,456 humans
Sanna Gudmundsson, Konrad J Karczewski, Laurent C Francioli, et al.
American Journal of Human Genetics
|
January 28, 2021
De novo TRIM8 variants impair its protein localization to nuclear bodies and cause developmental delay, epilepsy, and focal segmental glomerulosclerosis
Patricia L Weng, Amar J Majmundar, Kamal Khan, et al.
Nature
|
August 19, 2016
Analysis of protein-coding genetic variation in 60,706 humans
Monkol Lek, Konrad J Karczewski, Eric V Minikel, et al.
Medrxiv : the Preprint Server for Health Sciences
|
July 3, 2026
Structural variant discovery and diagnostic impact in rare diseases from short-read and long-read sequencing
Alba Sanchis-Juan, Yulia Mostovoy, Sarah L Stenton, et al.
Page
of 2