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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:TBX5

Variant:p.S252Splc

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TBX5

NM_181486.4:p.S252Splc

hg38:chr12:114385475 C>T

Associated Papers

Identification of a novel TBX5 c.755 + 1 G > A variant and related pathogenesis in a family with Holt-Oram syndrome.

Wang DG et al.

American Journal of Medical Genetics. Part A, 2022

34490705 (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."