elongation factor G, mitochondrial isoform 5 [Homo sapiens]

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Whole exome sequencing identifies a novel compound heterozygous GFM1 variant underlying developmental delay, dystonia, polymicrogyria, and severe intellectual disability in a Pakhtun family. [Am J Med Genet A. 2022]
Whole exome sequencing identifies a novel compound heterozygous GFM1 variant underlying developmental delay, dystonia, polymicrogyria, and severe intellectual disability in a Pakhtun family.
Khan AU, Khan I, Khan MI, Latif M, Siddiqui MI, Khan SU, Htar TT, Wahid G, Ullah I, Bibi F, et al. Am J Med Genet A. 2022 Sep; 188(9):2693-2700. Epub 2022 Jun 15.
[Analysis of GFM1 gene mutations in a family with combined oxidative phosphorylation deficiency 1]. [Zhejiang Da Xue Xue Bao Yi Xue...]
[Analysis of GFM1 gene mutations in a family with combined oxidative phosphorylation deficiency 1].
Shen Y, Yan K, Dong M, Yang R, Huang X. Zhejiang Da Xue Xue Bao Yi Xue Ban. 2020 Oct 25; 49(5):574-580.
Structures of the human mitochondrial ribosome bound to EF-G1 reveal distinct features of mitochondrial translation elongation. [Nat Commun. 2020]
Structures of the human mitochondrial ribosome bound to EF-G1 reveal distinct features of mitochondrial translation elongation.
Koripella RK, Sharma MR, Bhargava K, Datta PP, Kaushal PS, Keshavan P, Spremulli LL, Banavali NK, Agrawal RK. Nat Commun. 2020 Jul 31; 11(1):3830. Epub 2020 Jul 31.

RefSeq genomic sequence
See the genomic reference sequence for the GFM1 gene (NG_008441.2).
RefSeq mRNA
See reference mRNA sequence for the GFM1 gene (NM_001374356.1).

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