Varaico: Literature-Extracted Genetic Variants

Gene:MAPKAP1
Variant:p.K222M
Back to variants list

MAPKAP1

NM_001006617.3:p.K222M

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

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."