👤 Tatsuhiko Yagihashi

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Learning disability and myoclonic epilepsy associated with apparently synonymous but splice-disrupting JMJD1C variant that led to 21 bp deletion of the transcript.

Mamiko Yamada, Tatsuyuki Sokoda, Tomoko Uehara +5 more · 2020 · American journal of medical genetics. Part A · Wiley · added 2026-04-24
no PDF DOI: 10.1002/ajmg.a.61892
JMJD1C