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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CDRT15

Variant:p.T137_E138Splc

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CDRT15

NM_001007530.3:p.T137_E138Splc

hg38:chr17:14236280 G>A

Associated Papers

5' splice site GC>GT and GT>GC variants differ markedly in terms of their functionality and pathogenicity.

Lin JH et al.

Human Mutation, 2020

32369867 (PubMed )

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