Varaico: Literature-Extracted Genetic Variants

Gene:EIF5A
Variant:p.N78S
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EIF5A

NM_001970.5:p.N78S

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

Prioritization of non-coding elements involved in non-syndromic cleft lip with/without cleft palate through genome-wide analysis of de novo mutations.

Zieger HK et al.

Hgg Advances, 2023

36589413 (PubMed )
Supplement: mmc2.xlsx › Table_S15
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