Varaico: Literature-Extracted Genetic Variants

Gene:ZBTB7A
Variant:p.D452N
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ZBTB7A

NM_015898.4:p.D452N

Associated Papers

Protein structural context of cancer mutations reveals molecular mechanisms and candidate driver genes.

Chillón-Pino D et al.

Cell Reports, 2024

Heterozygous variants in ZBTB7A cause a neurodevelopmental disorder associated with symptomatic overgrowth of pharyngeal lymphoid tissue, macrocephaly, and elevated fetal hemoglobin.

von der Lippe C et al.

American Journal of Medical Genetics. Part A, 2022

Integrative Genomic Analysis of Pediatric Myeloid-Related Acute Leukemias Identifies Novel Subtypes and Prognostic Indicators.

Fornerod M et al.

Blood Cancer Discovery, 2021

34778799 (PubMed )
Supplement: bloodcandisc-2-586-s001.xlsx › Supplementary_Table_8
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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."