Varaico: Literature-Extracted Genetic Variants

Gene:ZBTB7A
Variant:p.S56I
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ZBTB7A

NM_015898.4:p.S56I

Associated Papers

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

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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."