Associated Papers
Detection of germline variants with pathogenic potential in 48 patients with familial colorectal cancer by using whole exome sequencing.
Singh AK et al.
Bmc Medical Genomics, 2023
37296477 (PubMed )
Supplement: 12920_2023_1562_MOESM3_ESM.xlsx › Stage3.1-ClassUnknown_variants
Multiple plasma membrane reporters discern LHFPL5 region that blocks trafficking to the plasma membrane.
Soler DC et al.
Scientific Reports, 2023
Mutations in the lipoma HMGIC fusion partner-like 5 (LHFPL5) gene cause autosomal recessive nonsyndromic hearing loss.
Kalay E et al.
Human Mutation, 2006
Select a paper to view details