Associated Papers
High proportion of transient neonatal zinc deficiency causing alleles in the general population.
Golan Y et al.
Journal of Cellular and Molecular Medicine, 2019
Whole-exome sequencing identifies novel pathogenic mutations and putative phenotype-influencing variants in Polish limb-girdle muscular dystrophy patients.
Fichna JP et al.
Human Genomics, 2018
29970176 (PubMed )
Supplement: 40246_2018_167_MOESM3_ESM.xlsx › skeletal_muscle
Exome array analysis identifies CAV1/CAV2 as a susceptibility locus for intraocular pressure.
Chen F et al.
Investigative Ophthalmology & Visual Science, 2014
Loss-of-function SLC30A2 mutants are associated with gut dysbiosis and alterations in intestinal gene expression in preterm infants.
Kelleher SL et al.
Gut Microbes, 0
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