Varaico: Literature-Extracted Genetic Variants

Gene:ALMS1
Variant:p.S524ins1
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ALMS1

NM_015120.4:p.S524ins1

Associated Papers

Microarray diagnosis of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy caused by a novel homozygous intragenic AIRE deletion.

Akesson LS et al.

Journal of Paediatrics and Child Health, 2021

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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."