Varaico: Literature-Extracted Genetic Variants

Gene:UNC13D
Variant:p.Q463P
Back to variants list

UNC13D

NM_199242.3:p.Q463P

Associated Papers

Targeted high-throughput sequencing for genetic diagnostics of hemophagocytic lymphohistiocytosis.

Tesi B et al.

Genome Medicine, 2015

The 253-kb inversion and deep intronic mutations in UNC13D are present in North American patients with familial hemophagocytic lymphohistiocytosis 3.

Qian Y et al.

Pediatric Blood & Cancer, 2014

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."