Varaico: Literature-Extracted Genetic Variants

Gene:SBF1
Variant:p.R1308W
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SBF1

NM_002972.4:p.R1308W

Associated Papers

The oligogenic inheritance test GCOD detects risk genes and their interactions in congenital heart defects.

Pittman M et al.

Genome Research, 2026

41386981 (PubMed )
Supplement: Supplemental_Tables.xlsx › S9

Genetic predisposition to neural crest-derived tumors: revisiting the role of KIF1B.

Cardot Bauters C et al.

Endocrine Connections, 2020

De novo mutations in moderate or severe intellectual disability.

Hamdan FF et al.

Plos Genetics, 2014

25356899 (PubMed )
Supplement: pgen.1004772.s004.xlsx › 1841.646
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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."