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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ASTN1

Variant:p.E1042Fs

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ASTN1

NM_004319.3:p.E1042Fs

hg38:chr1:176884440 T>CACTTGTGGTC

Associated Papers

Bi-allelic variants in neuronal adhesion molecule astrotactin 1 gene ASTN1 cause diverse neurodevelopmental disorders.

Levine JM et al.

American Journal of Human Genetics, 2026

41544630 (PubMed )

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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."