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Common homozygosity for predicted loss-of-function variants reveals both redundant and advantageous effects of dispensable human genes
Humans homozygous or hemizygous for variants predicted to cause a loss of function (LoF) of the corresponding protein do not necessarily present with overt clinical phenotypes. We report here 190 autosomal genes with 207 predicted LoF variants, for which the frequency of homozygous individuals excee...
Αποθηκεύτηκε σε:
| Τόπος έκδοσης: | Proc Natl Acad Sci U S A |
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| Κύριοι συγγραφείς: | , , , , , , , , , , , |
| Μορφή: | Artigo |
| Γλώσσα: | Inglês |
| Έκδοση: |
National Academy of Sciences
2020
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| Θέματα: | |
| Διαθέσιμο Online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7306792/ https://ncbi.nlm.nih.gov/pubmed/32487729 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1073/pnas.1917993117 |
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