Varaico: Literature-Extracted Genetic Variants

Gene:ALMS1
Variant:p.D259delFs
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ALMS1

NM_001378454.1:p.D259delFs

Associated Papers

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

Atypical Alstrom syndrome with novel ALMS1 mutations precluded by current diagnostic criteria.

Casey J et al.

European Journal of Medical Genetics, 2014

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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."