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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SMN2

Variant:p.W92*

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SMN2

NM_017411.4:p.W92*

hg38:chr5:70066936 G>A

Associated Papers

Clinical SMN1 and SMN2 Gene-Specific Sequencing to Enhance the Clinical Sensitivity of Spinal Muscular Atrophy Diagnostic Testing.

Miller CR et al.

Human Mutation, 2023

40225149 (PubMed )

Supplement: 6436853.f1.docx

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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."