Varaico: Literature-Extracted Genetic Variants

Gene:ZBTB20
Variant:p.C639Y
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ZBTB20

NM_001348800.3:p.C639Y

Associated Papers

Resolution of severe neurobehavioral difficulties in an individual with Primrose syndrome with sertraline.

Moon YM et al.

American Journal of Medical Genetics. Part A, 2024

Novel de novo mutation in ZBTB20 in a Chinese Primrose syndrome family and a review of the literature.

Li J et al.

Molecular Genetics & Genomic Medicine, 2024

Detection of low-level parental somatic mosaicism for clinically relevant SNVs and indels identified in a large exome sequencing dataset.

Domogala DD et al.

Human Genomics, 2021

Use of whole genome sequencing to determine genetic basis of suspected mitochondrial disorders: cohort study.

Schon KR et al.

Bmj (clinical Research Ed.), 2021

Unique skeletal manifestations in patients with Primrose syndrome.

Arora V et al.

European Journal 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."