Myasthenie.com • [SMC] Compound heterozygous CHAT gene mutations, a missense and a splice site variant, in two siblings with congenital m

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[SMC] Compound heterozygous CHAT gene mutations, a missense and a splice site variant, in two siblings with congenital m

Posté : 16 févr. 2026 12:00

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Sci Rep. 2026 Feb 16. doi: 10.1038/s41598-026-39759-y. Online ahead of print.

NO ABSTRACT

PMID:41699395 | DOI:10.1038/s41598-026-39759-y

Source: https://pubmed.ncbi.nlm.nih.gov/4169939 ... 22+67771e2