Varaico: Literature-Extracted Genetic Variants

Gene:PTS
Variant:p.R9C
Back to variants list

PTS

NM_000317.3:p.R9C

Associated Papers

Neurophysiological assessment of juvenile parkinsonism due to primary monoamine neurotransmitter disorders.

Passaretti M et al.

Journal of Neural Transmission (vienna, Austria : 1996), 2022

Extensive disruption of protein interactions by genetic variants across the allele frequency spectrum in human populations.

Fragoza R et al.

Nature Communications, 2019

31515488 (PubMed )
Supplement: 41467_2019_11959_MOESM8_ESM.xlsx › SD4_-_HGMD_Mutations

Elucidating common structural features of human pathogenic variations using large-scale atomic-resolution protein networks.

Das J et al.

Human Mutation, 2014

Phenotypic variability, neurological outcome and genetics background of 6-pyruvoyl-tetrahydropterin synthase deficiency.

Leuzzi V et al.

Clinical Genetics, 2010

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."