Varaico: Literature-Extracted Genetic Variants

Gene:VMA12
Variant:p.K43delFs
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VMA12

NM_152464.3:p.K43delFs

Associated Papers

Higher frequency of TMEM199-CDG in the southern mediterranean area is associated with c.92G>C (p.Arg31Pro) mutation.

Fiumara A et al.

European Journal of Medical Genetics, 2023

TMEM199-Congenital Disorder of Glycosylation With Novel Phenotype and Genotype in a Chinese Boy.

Fang Y et al.

Frontiers in Genetics, 2022

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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."