Varaico: Literature-Extracted Genetic Variants

Gene:SIL1
Variant:p.H71fs
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SIL1

NM_022464.5:p.H71fs

Associated Papers

Novel mutations in the SIL1 gene in a Japanese pedigree with the Marinesco-Sjögren syndrome.

Takahata T et al.

Journal of Human Genetics, 2010

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