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New insights into genetic variant spectrum and genotype–phenotype

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New insights into genetic variant spectrum and genotype–phenotype
Establishing an objective clinical spectrum, genotype-phenotype correlations, and CRMP1 as a modifier in the Ellis-van Creveld syndrome: The first systematic review of EVC- and EVC2-associated conditions - Genetics in Medicine Open
New insights into genetic variant spectrum and genotype–phenotype
New insights into the generation and role of de novo mutations in health and disease, Genome Biology
New insights into genetic variant spectrum and genotype–phenotype
Integrating de novo and inherited variants in 42,607 autism cases identifies mutations in new moderate-risk genes
New insights into genetic variant spectrum and genotype–phenotype
Expanding the phenotype half of the genotype−phenotype space
New insights into genetic variant spectrum and genotype–phenotype
Genotype-structure-phenotype relationships diverge in paralogs ATP1A1, ATP1A2, and ATP1A3
New insights into genetic variant spectrum and genotype–phenotype
A genotype-to-phenotype approach suggests under-reporting of single nucleotide variants in nephrocystin-1 (NPHP1) related disease (UK 100,000 Genomes Project)
New insights into genetic variant spectrum and genotype–phenotype
Frontiers Two decades of association mapping: Insights on disease resistance in major crops
New insights into genetic variant spectrum and genotype–phenotype
New Insights into Autism
New insights into genetic variant spectrum and genotype–phenotype
Genes, Free Full-Text
New insights into genetic variant spectrum and genotype–phenotype
Epigenomes, Free Full-Text
New insights into genetic variant spectrum and genotype–phenotype
Epigenomes of Human Hearts Reveal New Genetic Variants Relevant for Cardiac Disease and Phenotype
New insights into genetic variant spectrum and genotype–phenotype
Recent insights into the genotype–phenotype relationship from massively parallel genetic assays - Kemble - 2019 - Evolutionary Applications - Wiley Online Library
New insights into genetic variant spectrum and genotype–phenotype
Clinical Interpretation and Management of Genetic Variants
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