Associated Papers
MPC2 variants disrupt mitochondrial pyruvate metabolism and cause an early-onset mitochondriopathy.
Pujol C et al.
Brain : a Journal of Neurology, 2023
36417180 (PubMed )
Supplement: awac444_supplementary_data.zip › brain-2022-01298-File006.pdf
Activated leukocyte cell adhesion molecule/cluster of differentiation 166 rs10933819 (G>A) variant is associated with familial intracranial aneurysms.
Aitkulova A et al.
Biomedical Reports, 2022
35815187 (PubMed )
Supplement: Supplementary_Data.xlsx › 713_shortlisted_variants
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