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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ALK

Variant:p.A841_G843del3

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ALK

NM_004304.5:p.A841_G843del3

hg38:chr2:29232405 CCTCCGGCTG>C

Associated Papers

A de novo variant in CASK gene causing intellectual disability and brain hypoplasia: a case report and literature review.

Zhang Y et al.

Italian Journal of Pediatrics, 2022

35550617 (PubMed )

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