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RAPSN-Associated Congenital Myasthenic Syndrome due to Biallelic Single Nucleotide Variants at the Same Position.

Laura Keehan, Jennefer N Carter, Elijah Kravets +5 more · 2025 · Case reports in genetics · added 2026-04-24
Biallelic pathogenic variants in
no PDF DOI: 10.1155/crig/1882021
RAPSN