Varaico: Literature-Extracted Genetic Variants

Gene:ALMS1
Variant:p.E1386insFs
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ALMS1

NM_001378454.1:p.E1386insFs

Associated Papers

Alström syndrome-wide clinical variability within the same variant: a case report and literature review.

Jecan-Toader D et al.

Frontiers in Pediatrics, 2024

Alström's Syndrome, Leber's Hereditary Optic Neuropathy, or Retinitis Pigmentosa? A Case of Misdiagnosis.

Alexopoulos P et al.

Case Reports in Ophthalmological Medicine, 2023

Alström Syndrome with Early Vision and Hearing Impairement.

Beqiri-Jashari A et al.

Prilozi (makedonska Akademija Na Naukite I Umetnostite. Oddelenie Za Medicinski Nauki), 2022

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."