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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:BACH1

Variant:p.C299_P300del2

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BACH1

NM_001186.4:p.C299_P300del2

hg38:chr21:29326718 GTGCCCA>G

Associated Papers

Extending the phenotypic spectrum of Bohring-Opitz syndrome: Mild case confirmed by functional studies.

Leon E et al.

American Journal of Medical Genetics. Part A, 2020

31692235 (PubMed )

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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."