Associated Papers
The Configuration of GRB2 in Protein Interaction and Signal Transduction.
Wang D et al.
Biomolecules, 2024
Case Report: A Case of Adult Methylmalonic Acidemia With Bilateral Cerebellar Lesions Caused by a New Mutation in MMACHC Gene.
Wang S et al.
Frontiers in Neurology, 2022
Hereditary heart disease: pathophysiology, clinical presentation, and animal models of HCM, RCM, and DCM associated with mutations in cardiac myosin light chains.
Yadav S et al.
Pflugers Archiv : European Journal of Physiology, 2019
Pathogenicity of MSH2 missense mutations is typically associated with impaired repair capability of the mutated protein.
Ollila S et al.
Gastroenterology, 2006
Exhaustive mutation scanning by fluorescence-assisted mismatch analysis discloses new genotype-phenotype correlations in angiodema.
Verpy E et al.
American Journal of Human Genetics, 1996
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