Varaico: Literature-Extracted Genetic Variants

Gene:VPS4A
Variant:p.E100K
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VPS4A

NM_013245.3:p.E100K

Associated Papers

Genomic sequencing has a high diagnostic yield in children with congenital anomalies of the heart and urinary system.

Allred ET et al.

Frontiers in Pediatrics, 2023

Early-infantile developmental and epileptic encephalopathy: the aetiologies, phenotypic differences and outcomes-a prospective observational study.

Agarwala P et al.

Brain Communications, 2023

Dissecting the N-ethylmaleimide-sensitive factor: required elements of the N and D1 domains.

Zhao C et al.

The Journal of Biological Chemistry, 2010

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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."