Varaico: Literature-Extracted Genetic Variants

Gene:RAI1
Variant:p.Q280_Q281delFs
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RAI1

NM_030665.4:p.Q280_Q281delFs

Associated Papers

Exome Sequencing Reveals the Genetic Architecture of Non-syndromic Orofacial Clefts and Identifies BOC as a Novel Causal Gene.

He Q et al.

Advanced Science (weinheim, Baden-wurttemberg, Germany), 2025

40464334 (PubMed )
Supplement: ADVS-12-e12073-s004.xlsx › Sheet1

Waardenburg syndrome type 2 with a de novo variant of the SOX10 gene: a case report.

Li Y et al.

Bmc Medical Genomics, 2024

38659011 (PubMed )
Supplement: 12920_2024_1877_MOESM2_ESM.xlsx › H12056928648

Three-dimensional genomic mapping of human pancreatic tissue reveals striking multifocality and genetic heterogeneity in precancerous lesions.

Braxton AM et al.

Biorxiv : the Preprint Server for Biology, 2023

36747709 (PubMed )
Supplement: media-5.xlsx › 114
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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."