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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PITX3

Variant:p.Y144C

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PITX3

NM_005029.4:p.Y144C

hg38:chr10:102230992 T>C

Associated Papers

Dysmorphic Findings in SAHH Deficiency with a Novel Variant in the AHCY Gene.

Ciki K et al.

Molecular Syndromology, 2024

39634240 (PubMed )

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