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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ABHD12

Variant:p.N127_Y129delFs

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ABHD12

NM_001042472.3:p.N127_Y129delFs

hg38:chr20:25323360 GTAGTAGT>G

Associated Papers

Genotype-phenotype spectrum and correlation of PHARC Syndrome due to pathogenic ABHD12 variants.

Long X et al.

Bmc Medical Genomics, 2024

39123271 (PubMed )

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