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Your search keyword '"Gudmundsson, Sanna"' showing total 18 results

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18 results on '"Gudmundsson, Sanna"'

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1. Advanced variant classification framework reduces the false positive rate of predicted loss-of-function variants in population sequencing data

3. Advanced variant classification framework reduces the false positive rate of predicted loss of function (pLoF) variants in population sequencing data

5. P559: Improved classification framework demonstrates many population predicted loss of function (pLoF) variants in genomic sequencing do not result in LoF*

6. Centers for Mendelian Genomics: A decade of facilitating gene discovery

7. Loss of Nexilin function leads to a recessive lethal fetal cardiomyopathy characterized by cardiomegaly and endocardial fibroelastosis

8. A form of muscular dystrophy associated with pathogenic variants in JAG2

9. A form of muscular dystrophy associated with pathogenic variants in JAG2

10. Amplification-free long-read sequencing reveals unforeseen CRISPR-Cas9 off-target activity

11. Delineation of phenotypes and genotypes related to cohesin structural protein RAD21

12. Amplification-free long read sequencing reveals unforeseen CRISPR-Cas9 off-target activity

13. TAF1, associated with intellectual disability in humans, is essential for embryogenesis and regulates neurodevelopmental processes in zebrafish

17. Revertant mosaicism repairs skin lesions in a patient with keratitis-ichthyosis-deafness syndrome by second-site mutations in connexin 26

18. Targeted high-throughput sequencing of candidate genes for chronic obstructive pulmonary disease

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