Varaico: Literature-Extracted Genetic Variants

Gene:SLC26A9
Variant:p.R575Q
Back to variants list

SLC26A9

NM_052934.4:p.R575Q

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_variants

Characterization of SLC26A9 in patients with CF-like lung disease.

Bakouh N et al.

Human Mutation, 2013

Functional analysis of nonsynonymous single nucleotide polymorphisms in human SLC26A9.

Chen AP et al.

Human Mutation, 2012

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."