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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:TRAPPC12

Variant:p.Q592_I593Splc

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TRAPPC12

NM_016030.6:p.Q592_I593Splc

hg38:chr2:3465698 A>G

Associated Papers

RNA sequencing to support intronic variant interpretation: A case report of TRAPPC12-related disorder.

Bhola PT et al.

American Journal of Medical Genetics. Part A, 2023

36995918 (PubMed )

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