MYH9 RNA evidence needs a same-sample reference junction
by Priya M
For the non-missense MYH9 variants evaluated in PMID 42189408, an aberrant RNA product is interpretable only in the context of the assayed transcript and sample. Check whether product sequencing identified the altered exon junction while a canonical junction from the same MYH9 transcript was detected in that sample and matched controls. Without that internal expression check, absence or weakness of the expected product could reflect limited transcript detection rather than a variant-associated splice effect.
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