Repository of Research and Investigative Information
Shahid Sadoughi University of Medical Sciences
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(2025) Biallelic NDUFA13 variants lead to a neurodevelopmental phenotype with gradual neurological impairment. Brain Communications. ISSN 26321297
(2020) Loss of UGP2 in brain leads to a severe epileptic encephalopathy, emphasizing that bi-allelic isoform-specific start-loss mutations of essential genes can cause genetic diseases. Acta neuropathologica. pp. 415-442. ISSN 1432-0533