Varaico: Literature-Extracted Genetic Variants

Gene:MFSD8
Variant:p.V346delFs
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MFSD8

NM_001371596.2:p.V346delFs

Associated Papers

Neuronal Ceroid Lipofuscinoses Type 7 (CLN7)- A Case Series Reporting Cross Sectional and Retrospective Clinical Data to Evaluate Validity of Standardized Tools to Assess Disease Progression, Quality of Life, and Adaptive Skills.

Kayani S et al.

Research Square, 2024

Long-term progression of retinal degeneration in a preclinical model of CLN7 Batten disease as a baseline for testing clinical therapeutics.

Rowe AA et al.

Ebiomedicine, 2022

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."