A new patient with congenital myasthenic syndrome type 20 due to compound heterozygous missense SLC5A7 variants suggests trends in genotype–phenotype correlation.
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| Title: | A new patient with congenital myasthenic syndrome type 20 due to compound heterozygous missense SLC5A7 variants suggests trends in genotype–phenotype correlation. |
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| Authors: | 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) |
| Source: | Molecular Genetics & Genomic Medicine. Jun2023, Vol. 11 Issue 6, p1-5. 5p. |
| Database: | Academic Search Ultimate |
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| ISSN: | 23249269 |
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| DOI: | 10.1002/mgg3.2154 |
