Varaico: Literature-Extracted Genetic Variants

Gene:ATF6
Variant:p.I171delFs
Back to variants list

ATF6

NM_007348.4:p.I171delFs

Associated Papers

Adult genomic medicine: lessons from a multisite study of 2700 patients.

Bakur K et al.

Genome Medicine, 2025

41024252 (PubMed )
Supplement: 13073_2025_1529_MOESM1_ESM.xlsx › Sheet1

18-Years of single-centre DNA testing in over 7000 index cases with inherited retinal dystrophies and optic neuropathies.

Kiel C et al.

Scientific Reports, 2024

39462066 (PubMed )
Supplement: 41598_2024_77014_MOESM2_ESM.xlsx › solved_patients

What is the right sequencing approach? Solo VS extended family analysis in consanguineous populations.

Alfares A et al.

Bmc Medical Genomics, 2020

32680510 (PubMed )
Supplement: 12920_2020_743_MOESM3_ESM.xlsx › Sheet1

Applying filtration steps to interpret the results of whole-exome sequencing in a consanguineous population to achieve a high detection rate.

Alfares AA

International Journal of Health Sciences, 0

Phenotype and genotype of 15 Saudi patients with achromatopsia: A case series.

Danish E et al.

Saudi Journal of Ophthalmology : Official Journal of the Saudi Ophthalmological Society, 0

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."