Varaico: Literature-Extracted Genetic Variants

Gene:VPS13B
Variant:p.N3088Y
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VPS13B

NM_152564.5:p.N3088Y

Associated Papers

Cohen syndrome in two patients from China.

Gong J et al.

Molecular Genetics & Genomic Medicine, 2022

Disease relevance of rare VPS13B missense variants for neurodevelopmental Cohen syndrome.

Zorn M et al.

Scientific Reports, 2022

Genetic Evaluation of 114 Chinese Short Stature Children in the Next Generation Era: a Single Center Study.

Huang Z et al.

Cellular Physiology and Biochemistry : International Journal of Experimental Cellular Physiology, Biochemistry, and Pharmacology, 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."