Varaico: Literature-Extracted Genetic Variants

Gene:PPM1K
Variant:p.M1V
Back to variants list

PPM1K

NM_152542.5:p.M1V

Associated Papers

Expanding the Genetic Spectrum of PPM1K-Related Maple Syrup Urine Disease: A Novel Mutation.

Kılıç M et al.

American Journal of Medical Genetics. Part A, 2025

Spectrum of genetic variants associated with maple syrup urine disease in the Middle East, North Africa, and Türkiye (MENAT): a systematic review.

Younes S et al.

Bmc Medical Genomics, 2025

PPM1K defects cause mild maple syrup urine disease: The second case in the literature.

Ozcelik F et al.

American Journal of Medical Genetics. Part A, 2023

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."