Associated Papers
Aggregated Genomic Data as Cohort-Specific Allelic Frequencies can Boost Variants and Genes Prioritization in Non-Solved Cases of Inherited Retinal Dystrophies.
Iancu IF et al.
International Journal of Molecular Sciences, 2022
35955564 (PubMed )
Supplement: ijms-23-08431-s001.zip › ijms-1808225-supplementary.pdf
A novel delins mutation in the alpha-TTP gene in a family segregating ataxia with isolated vitamin E deficiency.
Fernández-Burriel M et al.
Pediatric Research, 2008
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