A new patient with congenital myasthenic syndrome type 20 due to compound heterozygous missense SLC5A7 variants suggests trends in genotype-phenotype correlation.

With one exception, none of the dependencies reached standard 5% statistical significance, but there was a clear trend toward a less severe neuromuscular phenotype in patients with less deleterious variants (Figure 1 and File S1 ).

also in 11,406 other papers