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

Autor: Vlckova, Marketa1 (AUTHOR) marketa.vlckova@lfmotol.cuni.cz, Prchalova, Darina1 (AUTHOR), Zimmermann, Pavel2 (AUTHOR), Haberlova, Jana3 (AUTHOR), Bendova, Sarka1 (AUTHOR), Moslerova, Veronika1 (AUTHOR), Stranecky, Viktor4 (AUTHOR), Sedlacek, Zdenek1 (AUTHOR), Hancarova, Miroslava1 (AUTHOR)
Zdroj: Molecular Genetics & Genomic Medicine. Jun2023, Vol. 11 Issue 6, p1-5. 5p.
Databáze: Academic Search Ultimate
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