Varaico: Literature-Extracted Genetic Variants

Gene:COL4A1
Variant:p.G846R
Back to variants list

COL4A1

NM_001845.6:p.G846R

Associated Papers

Impact of deep phenotyping: high diagnostic yield in a diverse pediatric population of 172 patients through clinical whole-genome sequencing at a single center.

Akgun-Dogan O et al.

Frontiers in Genetics, 2024

38560291 (PubMed )
Supplement: Table2.XLSX › Sheet1

Clinical utility of genetic testing in 201 preschool children with inherited eye disorders.

Lenassi E et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020

31848469 (PubMed )
Supplement: 41436_2019_722_MOESM1_ESM.pdf
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."