Varaico: Literature-Extracted Genetic Variants

Gene:HCFC1
Variant:p.V954M
Back to variants list

HCFC1

NM_005334.3:p.V954M

Associated Papers

HCFC1 variants in the proteolysis domain are associated with X-linked idiopathic partial epilepsy: Exploring the underlying mechanism.

He N et al.

Clinical and Translational Medicine, 2023

37264743 (PubMed )
Supplement: CTM2-13-e1289-s002.docx

Congenital dyserythropoietic anemia type I mimicking myelodysplasia syndrome with a novel CDAN1 mutation.

Lv X et al.

Annals of Hematology, 2020

The Clinical and Genetic Features of Co-occurring Epilepsy and Autism Spectrum Disorder in Chinese Children.

Long S et al.

Frontiers in Neurology, 2019

31139143 (PubMed )
Supplement: Data_Sheet_1.xlsx › Table_S1__gene_and_CNV
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."