Varaico: Literature-Extracted Genetic Variants

Gene:INS
Variant:p.L8Q
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INS

NM_000207.3:p.L8Q

Associated Papers

Next generation sequencing targeted gene panel in Greek MODY patients increases diagnostic accuracy.

Tatsi EB et al.

Pediatric Diabetes, 2020

Molecular mechanisms underlying the impact of mutations in SOD1 on its conformational properties associated with amyotrophic lateral sclerosis as revealed with molecular modelling.

Alemasov NA et al.

Bmc Structural Biology, 2018

Identification of insulin gene variants in neonatal diabetes.

Gohar NA et al.

The Journal of Maternal-fetal & Neonatal Medicine : the Official Journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians, 2017

Potential Role of Phosphorylation as a Regulator of Aspartyl-(asparaginyl)-β-hydroxylase: Relevance to Infiltrative Spread of Human Hepatocellular Carcinoma.

Borgas DL et al.

Liver Cancer, 2015

Insulin gene variable number of tandem repeats is associated with increased fat mass during adolescence in non-obese girls.

Thorsby PM et al.

Scandinavian Journal of Clinical and Laboratory Investigation, 2005

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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."