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ProteomicsLoss of function variants in SAXO6, encoding a microtubule inner protein of photoreceptor cilia, causes a late-onset retinal dystrophy
Over 500 genes have been linked to various forms of inherited retinal diseases (IRDs), a class of Mendelian conditions affecting the survival and function of rod and cone photoreceptors and leading in most instances to progressive visual loss. Yet, some patients still lack a clear genetic diagnosis,...
ORGANISM(S): Bos Taurus (ncbitaxon:9913) 
2026-01-28 | MSV000100624 | MassIVE
UnknownA KCNK16 mutation causing TALK-1 gain of function is associated with maturity-onset diabetes of the young.
Not available
S-EPMC8410089 | biostudies-literature
UnknownTMEM41B is a novel regulator of autophagy and lipid mobilization
Not available
S-SCDT-EMBOR-2018-45889V1 | biostudies-other
GenomicsAlzheimer's Disease Sequencing Project (ADSP)

The overarching goals of the ADSP are to: (1) identify new genomic variants contributing to increased risk of developing AD, (2) identify new genomic variants contributing to protection against developing AD, and (3) provide insight as to why individuals with known risk factor variants escape fro...

phs000572.v1.p1 | EGA
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