Varaico: Literature-Extracted Genetic Variants

Gene:TF
Variant:p.S688Splc
Back to variants list

TF

NM_001063.4:p.S688Splc

Associated Papers

Novel transferrin gene mutations in four new cases of congenital Atransferrinaemia: Functional and diagnostic pathogenicity despite negative bioinformatics.

Romero-Cortadellas L et al.

British Journal of Haematology, 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."