Varaico: Literature-Extracted Genetic Variants

Gene:ALMS1
Variant:p.Q3669*
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ALMS1

NM_001378454.1:p.Q3669*

Associated Papers

Histopathology of the human inner ear in Alström's syndrome.

Nadol JB et al.

Audiology & Neuro-otology, 2015

Arrayed primer extension technology simplifies mutation detection in Bardet-Biedl and Alström syndrome.

Pereiro I et al.

European Journal of Human Genetics : Ejhg, 2011

Alstrom syndrome (OMIM 203800): a case report and literature review.

Joy T et al.

Orphanet Journal of Rare Diseases, 2007

Spectrum of ALMS1 variants and evaluation of genotype-phenotype correlations in Alström syndrome.

Marshall JD et al.

Human Mutation, 2007

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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."