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M. Sarma

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Open access Jul 2026

Prognosis of pediatric hepatic Wilson disease with ATP7B loss of function variants

A single ATP7B LOF variant, especially c.813C>A was associated with advanced liver disease, portal hypertension, and extrahepatic involvement and over a follow-up of 6.7 years, a single LOF variant did not show a poorer liver or overall outcomes in comparison to ≥2 LOF variants.

A. K. Mishra, M. Sarma, Anchal Dubey et al. · 0 citations