An Unbiased View of thr777
An Unbiased View of thr777
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The combination germline classification for this variant, commonly for just a monogenic or Mendelian ailment as during the ACMG/AMP pointers, or for reaction to the drug. This benefit is calculated by NCBI dependant on facts from submitters. Read our rules for calculating the aggregate classification.
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The number of variants in ClinVar that are contained within this gene, having a connection to look at the list of variants.
Aberrant five' splice web-sites in human sickness genes: mutation sample, nucleotide framework and comparison of computational equipment that predict their utilization.
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There are no citations for germline classification of the variant in ClinVar. If you recognize of citations for this variation, make sure you consider publishing that details to ClinVar.
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These citations are determined by LitVar utilizing the rs range, so They could include things like citations for multiple variant at this site. You should evaluate the LitVar success carefully for your variant of desire. History very last up-to-date May well 19, 2024
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