Varaico: Literature-Extracted Genetic Variants

Gene:ATN1
Variant:p.S434C
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ATN1

NM_001940.4:p.S434C

Associated Papers

A Case of Congenital Hypotonia and Developmental Delay in an Individual with a De Novo Variant Outside of the Canonical HX-Motif of ATN1.

Makarova E et al.

Case Reports in Genetics, 2023

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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."