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They submitted variants of the red and black Albanian flag, its two-headed eagle proudly displayed at weddings and on the battlefield for decades.
MU2A uses information on predicted transcript to RefSeq misalignments to flag submitted variants that correspond to known single base differences between the genome and transcriptome, or that correspond to base differences due to gaps.
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Do they submit variants for further analysis using biological methods or in animal models?
Those submitting new variants to the database are expected to follow their own Institutional Review Board protocols or consenting processes, as their host institutions deem necessary.
Those submitting novel variants to the database are expected to follow their own Institutional Review Board IRBB) protocols or consenting processes according to their institution's instructions.
Variant databases support variant interpretation but further blur respective responsibilities between submitting laboratories, variant databases, and physicians.
The newly described BRCA2 6005delT mutation has been submitted to LOVD (Variant ID 0000058963).
The newly described mutation, BRCA2 6005delT has been submitted to LOVD (Variant ID 0000058963).
We identified 4 new alleles for the housekeeping genes included in the MLST scheme, 8 new STs, 5 new PorA variants and 4 new FetA variants, all submitted to the MLST database (http://pubmlst.org/neisseria/).org/neisseria/
The identified de novo variants were submitted to ClinVar (accessions SCV000154970 and SCV000154971) and to the LOVD gene variant database at http://www.lovd.nl/NAA10 (individual IDs 16948 and 16949).
CDS non-synonymous variants were also submitted to PROVEAN (Protein Variation Effect Analyzer algorithm) analysis, which predicts the functional impact for all classes of protein sequence variations such as single amino acid substitutions but also insertions, deletions, and multiple substitutions [ 21].
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