Varaico: Literature-Extracted Genetic Variants

Gene:ALMS1
Variant:p.K1055insFs
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ALMS1

NM_001378454.1:p.K1055insFs

Associated Papers

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

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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."