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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CAPN8

Variant:p.E550*

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CAPN8

NM_001143962.2:p.E550*

hg38:chr1:223551011 C>A

Associated Papers

Next-generation sequencing identifies transportin 3 as the causative gene for LGMD1F.

Torella A et al.

Plos One, 2013

23667635 (PubMed )

Supplement: pone.0063536.s006.xlsx › LGMD1F_HET_in_all

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