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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CD2

Variant:p.S2G

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CD2

NM_001767.5:p.S2G

hg38:chr1:116754496 A>G

Associated Papers

How do SMA-linked mutations of SMN1 lead to structural/functional deficiency of the SMA protein?

Li W

Plos One, 2017

28570645 (PubMed )

Supplement: pone.0178519.s002.pdf

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