A combination of two variants in PRKAG3 is needed for a positive effect on meat quality in pigs

Direct sequencing of β-globin gene reveals a rare combination of two exonic and two intronic variants in a β-thalassemia major patient: A case report

5 p | 6 | 2

Combining a prioritization strategy and functional studies nominates 5’UTR variants underlying inherited retinal disease

21 p | 3 | 1