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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:INPPL1

Variant:p.C704Y

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INPPL1

NM_001567.4:p.C704Y

hg38:chr11:72233511 G>A

Associated Papers

Pamidronate Treatment of a Patient with Opsismodysplasia and a Novel INPPL1 Variant: Efficacy, Mechanism, and Clinical Outcomes.

Tabanli G et al.

Molecular Syndromology, 2026

40620719 (PubMed )

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