Back
#1
29.9%
Top 65%
8.1%
Top 41%
6.2%
Top 0.3%
5.8%
Top 3%
5.2%
Top 6%
2.9%
Top 2%
2.0%
Top 42%
1.6%
Top 12%
1.6%
Top 7%
1.6%
Top 33%
1.4%
Top 10%
1.4%
Top 7%
1.4%
Top 4%
1.2%
Top 5%
1.0%
Top 12%
0.7%
Top 6%
0.7%
Top 8%
0.7%
Top 7%
0.7%
The Phenotypic Spectrum of COL4A3 Heterozygotes
2023-04-17
nephrology
Title + abstract only
View on medRxiv
Show abstract
Most data on Alport Syndrome (AS) due to COL4A3 are limited to families with autosomal recessive AS or severe manifestations such as focal segmental glomerulosclerosis (FSGS). Using data from 174,418 participants in the Geisinger MyCode/DiscovEHR study, an unselected health system-based cohort with whole exome sequencing, we identified 403 participants (0.2%) who were heterozygous for likely pathogenic COL4A3 variants. Phenotypic data was evaluated using International Classification of Diseases ...
Predicted journal destinations
1
Journal of the American Society of Nephrology
19 training papers
2
PLOS ONE
1737 training papers
3
Scientific Reports
701 training papers
4
Journal of Clinical Investigation
50 training papers
5
BMC Medicine
155 training papers
6
Journal of Clinical Medicine
77 training papers
7
Diabetologia
23 training papers
8
Nature Communications
483 training papers
9
JAMA Network Open
125 training papers
10
PLOS Medicine
95 training papers
11
eLife
262 training papers
12
Proceedings of the National Academy of Sciences
100 training papers
13
Nature Medicine
88 training papers
14
European Journal of Human Genetics
25 training papers
15
Hypertension
20 training papers
16
eBioMedicine
82 training papers
17
Communications Medicine
63 training papers
18
JCI Insight
63 training papers
19
PLOS Genetics
39 training papers