Varaico: Literature-Extracted Genetic Variants

Gene:ANO8
Variant:p.A4T
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ANO8

NM_020959.3:p.A4T

Associated Papers

A mutation affecting laminin alpha 5 polymerisation gives rise to a syndromic developmental disorder.

Jones LK et al.

Development (cambridge, England), 2020

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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."