Varaico: Literature-Extracted Genetic Variants

Gene:MFSD8
Variant:p.G52Splc
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MFSD8

NM_001371596.2:p.G52Splc

Associated Papers

A clinical utility study of exome sequencing versus conventional genetic testing in pediatric neurology.

Vissers LELM et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017

28333917 (PubMed )
Supplement: gim20171x1.zip › Vissers_GiM-D-16-00442__Supplementary_Table_4.xlsx › Suppl_Table_4

Neuronal Ceroid Lipofuscinoses in Children.

Kamate M et al.

Annals of Indian Academy of Neurology, 0

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