Associated Papers
C12ORF57: a novel principal regulator of synaptic AMPA currents and excitatory neuronal homeostasis.
Jiang R et al.
Biorxiv : the Preprint Server for Biology, 2025
Diagnostic implications of pitfalls in causal variant identification based on 4577 molecularly characterized families.
AlAbdi L et al.
Nature Communications, 2023
37644014 (PubMed )
Supplement: 41467_2023_40909_MOESM4_ESM.xlsx › Sheet1
Heterogeneity in biomarkers, mitogenome and genetic disorders of the Arab population with special emphasis on large-scale whole-exome sequencing.
Borgio JF
Archives of Medical Science : Ams, 2023
Lysine acetylation regulates the interaction between proteins and membranes.
Okada AK et al.
Nature Communications, 2021
34753925 (PubMed )
Supplement: 41467_2021_26657_MOESM4_ESM.zip › Bioinformatics.zip › Datasets › Unused › PTMVAR_download.xlsx › Humsavar_overlap_2PSP_PTM5-14-1
Temtamy syndrome caused by a new C12orf57 variant in a Chinese boy, including pedigree analysis and literature review.
Wang Y et al.
Experimental and Therapeutic Medicine, 2020
Genetic investigation of 93 families with microphthalmia or posterior microphthalmos.
Patel N et al.
Clinical Genetics, 2018
Further delineation of Temtamy syndrome of corpus callosum and ocular abnormalities.
Alrakaf L et al.
American Journal of Medical Genetics. Part A, 2018
Mutations in c12orf57 cause a syndromic form of colobomatous microphthalmia.
Zahrani F et al.
American Journal of Human Genetics, 2013
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