Varaico: Literature-Extracted Genetic Variants

Gene:ALMS1
Variant:p.A697D
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ALMS1

NM_001378454.1:p.A697D

Associated Papers

Alström syndrome: a cross-sectional and follow-up study of 127 patients in China, highlighting genetic variant spectrum and cardiac features.

Huang Y et al.

Orphanet Journal of Rare Diseases, 2025

Alström syndrome: A rare cause of dilated cardiomyopathy in five Chinese children.

Qi Y et al.

Gene, 2025

Ocular findings and genetic test in Alström syndrome in childhood.

Wang Y et al.

Experimental Eye Research, 2022

Molecular genetics of Leber congenital amaurosis in Chinese: New data from 66 probands and mutation overview of 159 probands.

Xu Y et al.

Experimental Eye Research, 2016

ALMS1 null mutations: a common cause of Leber congenital amaurosis and early-onset severe cone-rod dystrophy.

Xu Y et al.

Clinical Genetics, 2016

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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."