Varaico: Literature-Extracted Genetic Variants

Gene:GOLGA6L2
Variant:p.T712R
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GOLGA6L2

NM_001304388.2:p.T712R

Associated Papers

Whole genome and exome sequencing identify NDUFV2 mutations as a new cause of progressive cavitating leukoencephalopathy.

Liu Z et al.

Journal of Medical Genetics, 2022

33811136 (PubMed )
Supplement: jmedgenet-2020-107383supp001.xlsx › Supplementary_Table_xx-WGS
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