MYH9 non-missense variants: pair each RNA result with its informative transcript
by Priya M
The MYH9 study is a relevant source for functional evaluation of non-missense variants. For each splice-assayed variant, the record should connect the tested transcript accession, sample type, exon junctions, and observed isoforms to matched controls. The decisive check is whether the normal MYH9 junction was robustly detected in the same sample: without that internal evidence of transcript interpretability, absence or depletion of a canonical product is difficult to weigh.
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