Varaico: Literature-Extracted Genetic Variants

Gene:ABCA4
Variant:p.R948H
Back to variants list

ABCA4

NM_000350.3:p.R948H

Associated Papers

Deciphering the genetic architecture and ethnographic distribution of IRD in three ethnic populations by whole genome sequence analysis.

Biswas P et al.

Plos Genetics, 2021

Updating the Genetic Landscape of Inherited Retinal Dystrophies.

García Bohórquez B et al.

Frontiers in Cell and Developmental Biology, 2021

Molecular Screening of 43 Brazilian Families Diagnosed with Leber Congenital Amaurosis or Early-Onset Severe Retinal Dystrophy.

Porto FBO et al.

Genes, 2017

29186038 (PubMed )
Supplement: genes-08-00355-s001.zip › Porto_et_al._Genes._SupTable2.xlsx › Sheet2

A Report on Molecular Diagnostic Testing for Inherited Retinal Dystrophies by Targeted Genetic Analyses.

Ramkumar HL et al.

Genetic Testing and Molecular Biomarkers, 2017

Novel recurrently mutated genes and a prognostic mutation signature in colorectal cancer.

Yu J et al.

Gut, 2015

24951259 (PubMed )
Supplement: gutjnl-2013-306620-s7.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."