Varaico: Literature-Extracted Genetic Variants

Gene:ALMS1
Variant:p.T1386fs
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ALMS1

NM_015120.4:p.T1386fs

Associated Papers

Diagnostic Yield of Whole Exome Sequencing in Pediatric Dilated Cardiomyopathy.

Long PA et al.

Journal of Cardiovascular Development and Disease, 2017

Exome sequencing establishes diagnosis of Alström syndrome in an infant presenting with non-syndromic dilated cardiomyopathy.

Long PA et al.

American Journal of Medical Genetics. Part A, 2015

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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."