Varaico: Literature-Extracted Genetic Variants

Gene:BAZ2B
Variant:p.S703fs
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BAZ2B

NM_013450.4:p.S703fs

Associated Papers

Neurodevelopmental and other phenotypes recurrently associated with heterozygous BAZ2B loss-of-function variants.

Sewani S et al.

American Journal of Medical Genetics. Part A, 2024

Combining globally search for a regular expression and print matching lines with bibliographic monitoring of genomic database improves diagnosis.

Tran Mau-Them F et al.

Frontiers in Genetics, 2023

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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."