Prevalent ALMS1 Pathogenic Variants in Spanish Alström Patients
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DOI: 10.3390/genes12020282
Abstract: Alström syndrome (ALMS) is an ultrarare disease with an estimated prevalence lower than 1 in 1,000,000. It is associated with disease-causing mutations in the Alström syndrome 1 (ALMS1) gene, which codifies for a structural protein… read more here.
Keywords: pathogenic variants; alms1 pathogenic; analysis; prevalent alms1 ... See more keywords