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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:AP1S2

Variant:p.Q2*

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AP1S2

NM_001272071.2:p.Q2*

hg38:chrX:15852521 G>A

Associated Papers

Universal noninvasive prenatal diagnosis for monogenic disorders using cell-free plasma DNA.

Zhang L et al.

Genome Medicine, 2025

41345873 (PubMed )

Clinical Targeted Panel Sequencing Analysis in Clinical Evaluation of Children with Autism Spectrum Disorder in China.

Hu C et al.

Genes, 2022

35741772 (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."