Varaico: Literature-Extracted Genetic Variants

Gene:C12orf57
Variant:p.G77Splc
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C12orf57

NM_138425.4:p.G77Splc

Associated Papers

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

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

Further delineation of Temtamy syndrome of corpus callosum and ocular abnormalities.

Alrakaf L et al.

American Journal of Medical Genetics. Part A, 2018

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."