Varaico: Literature-Extracted Genetic Variants

Gene:PPFIA3
Variant:p.E40K
Back to variants list

PPFIA3

NM_003660.4:p.E40K

Associated Papers

Exemestane plus everolimus and palbociclib in metastatic breast cancer: clinical response and genomic/transcriptomic determinants of resistance in a phase I/II trial.

Gómez Tejeda Zañudo J et al.

Nature Communications, 2024

38503755 (PubMed )
Supplement: 41467_2024_45835_MOESM7_ESM.xlsx › Mutation_calls_-_WES

A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3.

Paul MS et al.

American Journal of Human Genetics, 2024

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."