Varaico: Literature-Extracted Genetic Variants

Gene:TNPO1
Variant:p.D222V
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TNPO1

NM_002270.4:p.D222V

Associated Papers

Complementary mutations in seipin gene in a patient with Berardinelli-Seip congenital lipodystrophy and dystonia: phenotype variability suggests multiple roles of seipin gene.

Wu YR et al.

Journal of Neurology, Neurosurgery, and Psychiatry, 2009

A variable neurodegenerative phenotype with polymerase gamma mutation.

Stricker S et al.

Journal of Neurology, Neurosurgery, and Psychiatry, 2009

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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."