Last Updated: 09/26/2026
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Found 3 publications
Biallelic OTUD6B variants associated with a Kabuki syndrome-like disorder in three siblings: A clinical report and literature review.
Journal: American journal of medical genetics. Part A
Published: September 11, 2023
Correction to: De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: March 09, 2021
De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: May 20, 2020
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Last Updated: 09/26/2026