Varaico: Literature-Extracted Genetic Variants

Gene:P3H3
Variant:p.M1V
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P3H3

NM_014262.5:p.M1V

Associated Papers

Whole-Exome Sequencing Analysis Identified Novel Mutations in the TSPAN12 Gene in Chinese Families with Familial Exudative Vitreoretinopathy.

Yuan Y et al.

Genetic Testing and Molecular Biomarkers, 2019

Analysis of FOXO1 mutations in diffuse large B-cell lymphoma.

Trinh DL et al.

Blood, 2013

Homology modeling of the human microsomal glucose 6-phosphate transporter explains the mutations that cause the glycogen storage disease type Ib.

Almqvist J et al.

Biochemistry, 2004

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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."