Varaico: Literature-Extracted Genetic Variants

Gene:MFSD8
Variant:p.T73insFs
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MFSD8

NM_001371596.2:p.T73insFs

Associated Papers

Molecular analysis and prenatal diagnosis of seven Chinese families with genetic epilepsy.

Mao B et al.

Frontiers in Neuroscience, 2023

The Association Between Lysosomal Storage Disorder Genes and Parkinson's Disease: A Large Cohort Study in Chinese Mainland Population.

Zhao YW et al.

Frontiers in Aging Neuroscience, 2021

34867278 (PubMed )
Supplement: Data_Sheet_1.PDF

Clinical exome sequencing as the first-tier test for diagnosing developmental disorders covering both CNV and SNV: a Chinese cohort.

Dong X et al.

Journal of Medical Genetics, 2020

32005694 (PubMed )
Supplement: jmedgenet-2019-106377supp005.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."