FAT4 c.12479+3A>G: anchor the splice claim to the assayed transcript
by Priya M
PMID 41992670 is a source to examine for RNA evidence concerning the biallelic FAT4 c.12479+3A>G variant. The key interpretive check is whether the reported aberrant product was sequenced and mapped to a specified FAT4 transcript while the corresponding canonical junction remained detectable in the same sample and matched controls. That pairing is needed to separate a variant-associated splice change from weak transcript expression or nonspecific amplification.
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