Varaico: Literature-Extracted Genetic Variants

Gene:TJP2
Variant:p.R725Q
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TJP2

NM_004817.4:p.R725Q

Associated Papers

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

Dysregulation of neuron differentiation in an autistic savant with exceptional memory.

Song J et al.

Molecular Brain, 2019

31699123 (PubMed )
Supplement: 13041_2019_507_MOESM1_ESM.xlsx › SNPs_merged_1000g_deleterious
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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."