Varaico: Literature-Extracted Genetic Variants

Gene:ALMS1
Variant:p.R3706fs
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ALMS1

NM_015120.4:p.R3706fs

Associated Papers

Genomic analyses of 10,376 individuals in the Westlake BioBank for Chinese (WBBC) pilot project.

Cong PK et al.

Nature Communications, 2022

35618720 (PubMed )
Supplement: 41467_2022_30526_MOESM5_ESM.xlsx › Data_2

A novel missense ALMS1 variant causes aberrant splicing identified in a cohort of patients with Alström syndrome.

Shi J et al.

Frontiers in Genetics, 2022

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