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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SRGAP2B

Variant:p.K141_S142Splc

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SRGAP2B

NM_001271870.5:p.K141_S142Splc

hg38:chr1:144951564 G>A

Associated Papers

Multifaceted analysis of noncoding and coding de novo variants implicates NOTCH signaling pathway in tetralogy of Fallot in Chinese population.

Lin Q et al.

Hgg Advances, 2025

39921258 (PubMed )

Supplement: mmc2.xlsx › S4_NC_DNVs_in_CHN-TOF

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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."