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UnknownDYNC2H1 hypomorphic or retina-predominant variants cause nonsyndromic retinal degeneration.
Not available
S-EPMC7708302 | biostudies-literature
UnknownAn ancestral 10-bp repeat expansion in VWA1 causes recessive hereditary motor neuropathy.
Not available
S-EPMC8263055 | biostudies-literature
UnknownNormal and pathogenic variation of RFC1 repeat expansions: implications for clinical diagnosis.
Not available
S-EPMC10689911 | biostudies-literature
UnknownOpportunities and Challenges for Molecular Understanding of Ciliopathies-The 100,000 Genomes Project.
Not available
S-EPMC6421331 | biostudies-literature
UnknownGenomic loci susceptible to systematic sequencing bias in clinical whole genomes.
Not available
S-EPMC7111519 | biostudies-literature
UnknownIdentification of 4 novel human ocular coloboma genes ANK3, BMPR1B, PDGFRA, and CDH4 through evolutionary conserved vertebrate gene analysis.
Not available
S-EPMC11505079 | biostudies-literature
UnknownMutational signature in colorectal cancer caused by genotoxic pks<sup>+</sup> E. coli.
Not available
S-EPMC8142898 | biostudies-literature
UnknownAssessing the digenic model in rare disorders using population sequencing data.
Not available
S-EPMC9712436 | biostudies-literature
UnknownSecondary C1q Deficiency in Activated PI3Kδ Syndrome Type 2.
Not available
S-EPMC6859795 | biostudies-literature
UnknownCasirivimab and imdevimab in patients admitted to hospital with COVID-19 (RECOVERY): a randomised, controlled, open-label, platform trial.
Not available
S-EPMC8830904 | biostudies-literature
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