👤 Elijah Kravets
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Articles
articles
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
Laura Keehan
,
Jennefer N Carter
,
Elijah Kravets
,
Matthew T Wheeler
,
Jonathan A Bernstein
,
Ricardo A Maselli
,
Jacinda B Sampson
,
Suha Bachir
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Biallelic pathogenic variants in
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DOI:
10.1155/crig/1882021
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RAPSN
1