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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:AMY1B

Variant:p.A325V

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AMY1B

NM_001008218.2:p.A325V

hg38:chr1:103691515 G>A

Associated Papers

Identification and validation of CARS1 p.E712V and NF1 p.Q2002X in sporadic Moyamoya disease across 30 trio pedigrees.

Wang Y et al.

Npj Genomic Medicine, 2026

41605952 (PubMed )

Supplement: 41525_2025_539_MOESM1_ESM.pdf

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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."