Varaico: Literature-Extracted Genetic Variants

Gene:SC5D
Variant:p.F254L
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SC5D

NM_006918.5:p.F254L

Associated Papers

Functional Validation of Noncoding Variants Associated With Nonsyndromic Orofacial Cleft.

Zhu S et al.

Human Mutation, 2025

40918684 (PubMed )
Supplement: 6824122.f3.xlsx › Table_S3

Investigating gene functions and single-cell expression profiles of de novo variants in orofacial clefts.

Itai T et al.

Hgg Advances, 2024

38807368 (PubMed )
Supplement: mmc2.xlsx › Table_S3

The presence of multiple variants affects the clinical phenotype and prognosis in left ventricular noncompaction after surgery.

Hirono K et al.

The Journal of Thoracic and Cardiovascular Surgery, 2018

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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."