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1.
Transcriptome sequencing of a large human family identifies the impact of rare noncoding variants.
Am J Hum Genet
; 95(3): 245-56, 2014 Sep 04.
Article
in English
| MEDLINE | ID: mdl-25192044
2.
Using High-Resolution Variant Frequencies Empowers Clinical Genome Interpretation and Enables Investigation of Genetic Architecture.
Am J Hum Genet
; 104(1): 187-190, 2019 01 03.
Article
in English
| MEDLINE | ID: mdl-30609406
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