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A novel homozygous mutation in TRAPPC9 gene causing autosomal recessive non-syndromic intellectual disability.
BMC Med Genomics. 2022 Nov 8;15(1):236. doi: 10.1186/s12920-022-01354-1.
BMC Med Genomics. 2022.
PMID: 36348459
Free PMC article.
Novel variants causing megalencephalic leukodystrophy in Sudanese families.
Amin M, Vignal C, Hamed AAA, Mohammed IN, Elseed MA, Drunat S, Babai A, Eltaraifee E, Elbadi I, Abubaker R, Mustafa D, Yahia A, Koko M, Osman M, Bakhit Y, Elshafea A, Alsiddig M, Haroun S, Lelay G, Elsayed LEO, Ahmed AE, Boespflug-Tanguy O, Dorboz I.
Amin M, et al. Among authors: elbadi i.
J Hum Genet. 2022 Mar;67(3):127-132. doi: 10.1038/s10038-021-00945-7. Epub 2021 Sep 10.
J Hum Genet. 2022.
PMID: 34504271
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