Varaico: Literature-Extracted Genetic Variants

Gene:RPL5
Variant:p.Y16delFs
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RPL5

NM_000969.5:p.Y16delFs

Associated Papers

Distinguishing syndromic and nonsyndromic cleft palate through analysis of protein-altering de novo variants in 818 trios.

Robinson KR et al.

American Journal of Human Genetics, 2025

Distinguishing syndromic and nonsyndromic cleft palate through analysis of protein-altering de novo variants in 816 trios.

Robinson KR et al.

Medrxiv : the Preprint Server for Health Sciences, 2025

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
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