Varaico: Literature-Extracted Genetic Variants

Gene:INS
Variant:p.G47R
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INS

NM_000207.3:p.G47R

Associated Papers

Computational Analysis of Deleterious nsSNPs in INS Gene Associated with Permanent Neonatal Diabetes Mellitus.

Ahmed EM et al.

Journal of Personalized Medicine, 2024

New clinical screening strategy to distinguish HNF1A variant-induced diabetes from young early-onset type 2 diabetes in a Chinese population.

Ma Y et al.

Bmj Open Diabetes Research & Care, 2020

32238361 (PubMed )
Supplement: bmjdrc-2019-000745supp001.pdf

New simple and quick method to analyze serum variant transthyretins: direct MALDI method for the screening of hereditary transthyretin amyloidosis.

Nomura T et al.

Orphanet Journal of Rare Diseases, 2019

Data-independent acquisition mass spectrometry reveals comprehensive plasma protein profiles in the natural history of patients with hereditary transthyretin amyloidosis (ATTRv).

He S et al.

Expert Review of Proteomics, 0

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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."