Varaico: Literature-Extracted Genetic Variants

Gene:RHPN2
Variant:p.G409Splc
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RHPN2

NM_033103.5:p.G409Splc

Associated Papers

Unraveling the Role of WDR91: Case Report of a Previously Unrecognized Clinical Entity.

Marinakis NM et al.

Clinical Genetics, 2026

40550703 (PubMed )
Supplement: CGE-109-176-s001.xlsx › Transcripts

Whole-exome sequencing identifies ECPAS as a novel potentially pathogenic gene in multiple hereditary families with nonsyndromic orofacial cleft.

Zhao H et al.

Protein & Cell, 2024

38695759 (PubMed )
Supplement: pwae021_suppl_supplementary_figures_s1-s10_tables_s1-s2.pdf

The Identification by Exome Sequencing of Candidate Genes in BRCA-Negative Tunisian Patients at a High Risk of Hereditary Breast/Ovarian Cancer.

BenAyed-Guerfali D et al.

Genes, 2022

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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."