Varaico: Literature-Extracted Genetic Variants

Gene:RP1L1
Variant:p.P2050S
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RP1L1

NM_178857.6:p.P2050S

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

Whole-genome sequencing reveals de-novo mutations associated with nonsyndromic cleft lip/palate.

Awotoye W et al.

Scientific Reports, 2022

35817949 (PubMed )
Supplement: 41598_2022_15885_MOESM1_ESM.pdf

A comprehensive WGS-based pipeline for the identification of new candidate genes in inherited retinal dystrophies.

González-Del Pozo M et al.

Npj Genomic Medicine, 2022

35246562 (PubMed )
Supplement: 41525_2022_286_MOESM1_ESM.pdf
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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."