Varaico: Literature-Extracted Genetic Variants

Gene:NBPF8
Variant:p.L392R
Back to variants list

NBPF8

NM_001037501.5:p.L392R

Associated Papers

A Stop-gain Variant c.220C>T (p.(Gln74*)) in FLNB Segregates with Spondylocarpotarsal Synostosis Syndrome in a Consanguineous Family.

Shahid H et al.

The Yale Journal of Biology and Medicine, 2023

37781000 (PubMed )
Supplement: yjbm_96_3_383_appendixA.xlsx › Appendix_A
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."