Varaico: Literature-Extracted Genetic Variants

Gene:C9orf72
Variant:p.T49R
Back to variants list

C9orf72

NM_018325.5:p.T49R

Associated Papers

Whole exome sequencing of 28 families of Danish descent reveals novel candidate genes and pathways in developmental dysplasia of the hip.

Dembic M et al.

Molecular Genetics and Genomics : Mgg, 2023

36454308 (PubMed )
Supplement: 438_2022_1980_MOESM4_ESM.xlsx › List_of_genes

Genetic compendium of 1511 human brains available through the UK Medical Research Council Brain Banks Network Resource.

Keogh MJ et al.

Genome Research, 2017

28003435 (PubMed )
Supplement: supp_gr.210609.116_Supplemental_Clinical_data.xlsx › Likely_Benign

Targeted exon capture and sequencing in sporadic amyotrophic lateral sclerosis.

Couthouis J et al.

Plos Genetics, 2014

25299611 (PubMed )
Supplement: pgen.1004704.s004.xlsx › Sheet1
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."