Varaico: Literature-Extracted Genetic Variants

Gene:TJP2
Variant:p.G694E
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TJP2

NM_004817.4:p.G694E

Associated Papers

Case Report: A Novel Missense Variant in the SIPA1L3 Gene Associated With Cataracts in a Chinese Family.

Yang D et al.

Frontiers in Genetics, 2021

34603379 (PubMed )
Supplement: Data_Sheet_2.XLSX › DX1616_21D03390595-1

New tight junction protein 2 variant causing progressive familial intrahepatic cholestasis type 4 in adults: A case report.

Wei CS et al.

World Journal of Gastroenterology, 2020

Identification of Two Disease-causing Genes TJP2 and GJB2 in a Chinese Family with Unconditional Autosomal Dominant Nonsyndromic Hereditary Hearing Impairment.

Wang HY et al.

Chinese Medical Journal, 2015

Genetic analysis of genes related to tight junction function in the Korean population with non-syndromic hearing loss.

Kim MA et al.

Plos One, 2014

[Study on nonsyndromic hereditary hearing impairment mutations of GJB2 gene in Uyghur patients in Xinjiang].

Li Y et al.

Lin Chuang Er Bi Yan Hou Tou Jing Wai Ke Za Zhi = Journal of Clinical Otorhinolaryngology Head and Neck Surgery, 2010

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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."