Associated Papers
Novel nonsense mutation in gene CHRNA2 identified by whole-genome sequencing in infant with epilepsy disorder: A case report.
Makhmetov S et al.
Heliyon, 2025
39834405 (PubMed )
Supplement: mmc4.xlsx › Sheet1
Rare coding variants and X-linked loci associated with age at menarche.
Lunetta KL et al.
Nature Communications, 2015
Exome-sequencing confirms DNAJC5 mutations as cause of adult neuronal ceroid-lipofuscinosis.
Benitez BA et al.
Plos One, 2011
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