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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:DPM1

Variant:p.L121fs

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DPM1

NM_003859.3:p.L121fs

hg38:chr20:50945858 GAG>N

Associated Papers

A Systematic Review Illustrates the Expanding Clinical and Molecular Landscape of Helsmoortel-Van der Aa Syndrome.

Harutyunyan L et al.

Brain Sciences, 2025

41594725 (PubMed )

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