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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PACS2

Variant:p.E209Q

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PACS2

NM_001100913.3:p.E209Q

hg38:chr14:105368112 G>C

Associated Papers

Understanding PACS2 syndrome's pathomechanism by studying E209K and E211K mutations.

Zbikowski A et al.

Mammalian Genome : Official Journal of the International Mammalian Genome Society, 2025

39738582 (PubMed )

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