Varaico: Literature-Extracted Genetic Variants

Gene:PPP1R3A
Variant:p.Q662delFs
Back to variants list

PPP1R3A

NM_002711.4:p.Q662delFs

Associated Papers

Exome sequencing reveals new insights into the germline landscape of inflammatory breast cancer among Tunisian patients.

Boujemaa M et al.

Journal of Translational Medicine, 2025

41088366 (PubMed )
Supplement: 12967_2025_7027_MOESM1_ESM.xlsx › S5

Tirzepatide for Lipodystrophy.

Meral R et al.

Medrxiv : the Preprint Server for Health Sciences, 2024

Precision medicine integrating whole-genome sequencing, comprehensive metabolomics, and advanced imaging.

Hou YC et al.

Proceedings of the National Academy of Sciences of the United States of America, 2020

Genetic pleiotropy between mood disorders, metabolic, and endocrine traits in a multigenerational pedigree.

Kember RL et al.

Translational Psychiatry, 2018

30315151 (PubMed )
Supplement: 41398_2018_226_MOESM2_ESM.xlsx › Supplemental_Table_5

Germline recessive mutations in PI4KA are associated with perisylvian polymicrogyria, cerebellar hypoplasia and arthrogryposis.

Pagnamenta AT et al.

Human Molecular Genetics, 2015

25855803 (PubMed )
Supplement: supp_ddv117_ddv117supp_table2.xls › Table_S2
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."