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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:WDR45

Variant:p.C242Splc

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WDR45

NM_001029896.2:p.C242Splc

hg38:chrX:49075467 T>A

Associated Papers

Generation of two human iPSC lines from fibroblasts of BPAN patients carrying pathogenic variants in the WDR45 gene.

Gasparini G et al.

Stem Cell Research, 2026

41496281 (PubMed )

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