Varaico: Literature-Extracted Genetic Variants

Gene:PANK2
Variant:p.R381_A382del1
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PANK2

NM_001386393.1:p.R381_A382del1

Associated Papers

On the complexity of clinical and molecular bases of neurodegeneration with brain iron accumulation.

Tello C et al.

Clinical Genetics, 2018

A novel 3-bp deletion in the PANK2 gene of Dutch patients with pantothenate kinase-associated neurodegeneration: evidence for a founder effect.

Rump P et al.

Neurogenetics, 2005

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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."