Varaico: Literature-Extracted Genetic Variants

Gene:AK4
Variant:p.S61C
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AK4

NM_013410.4:p.S61C

Associated Papers

Genomic analysis of 116 autism families strengthens known risk genes and highlights promising candidates.

Viggiano M et al.

Npj Genomic Medicine, 2024

38519481 (PubMed )
Supplement: 41525_2024_411_MOESM1_ESM.pdf

DNAJC6 is responsible for juvenile parkinsonism with phenotypic variability.

Köroğlu Ç et al.

Parkinsonism & Related Disorders, 2013

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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."