Varaico: Literature-Extracted Genetic Variants

Gene:NECTIN1
Variant:p.R210H
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NECTIN1

NM_002855.5:p.R210H

Associated Papers

The landscape of rare genetic variants in familial Waldenström macroglobulinemia.

Pemov A et al.

Blood Neoplasia, 2024

39036705 (PubMed )
Supplement: BNEO_NEO-2023-000111-mmc4.xlsx › Supplementary_Table_4

Impact of low-frequency coding variants on human facial shape.

Liu D et al.

Scientific Reports, 2021

MicroRNA-655-3p and microRNA-497-5p inhibit cell proliferation in cultured human lip cells through the regulation of genes related to human cleft lip.

Gajera M et al.

Bmc Medical Genomics, 2019

31122291 (PubMed )
Supplement: 12920_2019_535_MOESM1_ESM.zip › 3_Human_Cleft_Lip__Table_S3__Significant_R2.xlsx › Single_Gene_Significant

Unraveling genetic predisposition to familial or early onset gastric cancer using germline whole-exome sequencing.

Vogelaar IP et al.

European Journal of Human Genetics : Ejhg, 2017

28875981 (PubMed )
Supplement: ejhg2017138x4.xlsx › Suppl_Table_4

Identification of Novel Variants in the PVRL1 Gene in Patients With Nonsyndromic Cleft Lip With or Without Cleft Palate.

Oner DA et al.

Genetic Testing and Molecular Biomarkers, 2016

Mutation analysis of PVRL1 in patients with non-syndromic cleft of the lip and/or palate in Guangdong.

Shu SY et al.

Genetics and Molecular Research : Gmr, 2015

Efficiency of exome sequencing for the molecular diagnosis of pseudoxanthoma elasticum.

Hosen MJ et al.

The Journal of Investigative Dermatology, 2015

25264593 (PubMed )
Supplement: jid2014421x1.pdf

Novel insertion mutation in the PVRL1 gene in Turkish patients with non-syndromic cleft lip with/without cleft palate.

Aşlar D et al.

Archives of Oral Biology, 2014

PVRL1 as a candidate gene for nonsyndromic cleft lip with or without cleft palate: no evidence for the involvement of common or rare variants in southern Han Chinese patients.

Cheng HQ et al.

Dna and Cell Biology, 2012

Study of the poliovirus receptor related-1 gene in Thai patients with non-syndromic cleft lip with or without cleft palate.

Tongkobpetch S et al.

International Journal of Oral and Maxillofacial Surgery, 2008

PVRL1 variants contribute to non-syndromic cleft lip and palate in multiple populations.

Avila JR et al.

American Journal of Medical Genetics. Part A, 2006

Study of the PVRL1 gene in Italian nonsyndromic cleft lip patients with or without cleft palate.

Scapoli L et al.

Annals of Human Genetics, 2006

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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."