Varaico: Literature-Extracted Genetic Variants

Gene:HINT2
Variant:p.A31V
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HINT2

NM_032593.3:p.A31V

Associated Papers

Temperature-dependent autoactivation associated with clinical variability of PDGFRB Asn666 substitutions.

Bredrup C et al.

Human Molecular Genetics, 2021

33450762 (PubMed )
Supplement: supplemental_tables_and_figures_revision_ddab014.pdf
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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."