Varaico: Literature-Extracted Genetic Variants

Gene:PRF1
Variant:p.K284delFs
Back to variants list

PRF1

NM_001083116.3:p.K284delFs

Associated Papers

A novel homozygous disruptive PRF1 variant (K285Sfs*4) causes very early-onset of familial hemophagocytic lymphohystiocytosis type 2.

Saettini F et al.

Pediatric Hematology and Oncology, 2021

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."