Varaico: Literature-Extracted Genetic Variants

Gene:NDUFV1
Variant:p.Y177fs
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NDUFV1

NM_007103.4:p.Y177fs

Associated Papers

Development of iPSC-based clinical trial selection platform for patients with ultrarare diseases.

Sequiera GL et al.

Science Advances, 2022

Generation and Evaluation of Isogenic iPSC as a Source of Cell Replacement Therapies in Patients with Kearns Sayre Syndrome.

Lester Sequiera G et al.

Cells, 2021

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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."