Varaico: Literature-Extracted Genetic Variants

Gene:SETD5
Variant:p.V719fs
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SETD5

NM_001080517.3:p.V719fs

Associated Papers

De novo variants in neurodevelopmental disorders-experiences from a tertiary care center.

Brunet T et al.

Clinical Genetics, 2021

The pleiotropy associated with de novo variants in CHD4, CNOT3, and SETD5 extends to moyamoya angiopathy.

Pinard A et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020

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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."