Varaico: Literature-Extracted Genetic Variants

Gene:ALMS1
Variant:p.E283insFs
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ALMS1

NM_001378454.1:p.E283insFs

Associated Papers

Co-occurrence of homozygous ALMS1 variant, 17q11.2 mosaic and germline deletions, and VSX2 nonsense variant in a single family.

Mammadova N et al.

Molecular Biology Reports, 2025

The genetic landscape of inherited retinal dystrophies in Arabs.

Jaffal L et al.

Bmc Medical Genomics, 2023

37127645 (PubMed )
Supplement: 12920_2023_1518_MOESM2_ESM.xlsx › Sheet1
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