Confirmatory Molecular Diagnosis of <i>RFC1</i> Expansion in a Korean CANVAS Case Using Nanopore Cas9-Targeted Sequencing. [PDF]
Kim JM, Kim N, Lee S, Moon J.
europepmc +1 more source
Critical Appraisal of Limitations in the Study on JAK2V617F Zygosity and Disease Outcomes in MPNs. [PDF]
Sohail M, Irshad A, Hamza M.
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Genetic and Environmental Influences on Tooth Loss: A Twin Study of Middle-Aged and Older Adults in Qingdao, China. [PDF]
Wang Y +7 more
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Impact of zygosity on bimodal phenotype distributions
Allele number, or zygosity, is a clear determinant of gene expression in diploid cells. However, the relationship between the number of copies of a gene and its expression can be hard to anticipate, especially when the gene in question is embedded in a ...
Abad Adan, Elena +6 more
core
Strengths-based resilience: the biopsychosocial factors that differentiate 12-year mental well-being trajectories following adverse childhood experiences. [PDF]
Connon E +4 more
europepmc +1 more source
A multi-layer annotated corpus for information extraction in Russian clinical NLP. [PDF]
Sultangaziyeva A +4 more
europepmc +1 more source
Family SES amplifies genetic influences on organized activity involvement from childhood to young adulthood: evidence from the German twin family panel. [PDF]
Liu Y.
europepmc +1 more source
Clair3-RNA: a deep learning-based small variant caller for long-read RNA sequencing data. [PDF]
Zheng Z +9 more
europepmc +1 more source
A prospective co-twin control analysis of internalizing and externalizing pathways for alcohol, nicotine, and cannabis use problems from adolescence through adulthood. [PDF]
Foster KT +4 more
europepmc +1 more source
Genetic Architecture of Synaptic Failure in Dementia with Lewy Bodies: From α-Synuclein Proteoforms to GBA1-Mediated Plasticity Deficits. [PDF]
Bougea A.
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