The clinical utility of a risk-modifying SNP to detect carriers for spinal muscular atrophy with increased sensitivity.
Gardenier WareCecelia MillerDan JonesMatthew R AvenariusPublished in: Molecular genetics & genomic medicine (2022)
Incorporating the c.*3+80T>G risk-modifying SNP is important for detecting carriers for SMA with a higher clinical sensitivity.
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