Varaico: Literature-Extracted Genetic Variants

Gene:SEC16A
Variant:p.R1039C
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SEC16A

NM_014866.2:p.R1039C

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

Genomic alterations in ovarian endometriosis and subsequently diagnosed ovarian carcinoma.

Linder A et al.

Human Reproduction (oxford, England), 2024

38459814 (PubMed )
Supplement: deae043_supplementary_table_s3.xlsx › Endometriosis

Genetic Determinants of Plasma Low-Density Lipoprotein Cholesterol Levels: Monogenicity, Polygenicity, and "Missing" Heritability.

Martín-Campos JM

Biomedicines, 2021

34829957 (PubMed )
Supplement: biomedicines-09-01728-s001.zip › biomedicines-1435333-sup2.pdf

Deep Resequencing of Ulcerative Colitis-Associated Genes Identifies Novel Variants in Candidate Genes in the Korean Population.

Moon CM et al.

Inflammatory Bowel Diseases, 2018

29733354 (PubMed )
Supplement: izy122_suppl_supporting_data.pdf

Whole exome sequencing in three families segregating a pediatric case of sarcoidosis.

Calender A et al.

Bmc Medical Genomics, 2018

29510755 (PubMed )
Supplement: 12920_2018_338_MOESM6_ESM.xlsx › T1

Actionable perturbations of damage responses by TCL1/ATM and epigenetic lesions form the basis of T-PLL.

Schrader A et al.

Nature Communications, 2018

29449575 (PubMed )
Supplement: 41467_2017_2688_MOESM20_ESM.xlsx › b__Freq_TP096

Exome-wide association study of plasma lipids in >300,000 individuals.

Liu DJ et al.

Nature Genetics, 2017

Genome-wide association study identifies novel susceptibility loci for cutaneous squamous cell carcinoma.

Chahal HS et al.

Nature Communications, 2016

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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."