Varaico: Literature-Extracted Genetic Variants

Gene:SEC16A
Variant:p.P690L
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SEC16A

NM_014866.2:p.P690L

Associated Papers

SEC16A Variants Predispose to Chronic Pancreatitis by Impairing ER-to-Golgi Transport and Inducing ER Stress.

Wang MJ et al.

Advanced Science (weinheim, Baden-wurttemberg, Germany), 2024

Clinical and Genetic Analysis of CHD7 Expands the Genotype and Phenotype of CHARGE Syndrome.

Qin Z et al.

Frontiers in Genetics, 2020

32625235 (PubMed )
Supplement: Data_Sheet_1.zip › Supplementary_Table_2.XLSX › patient_5
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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."