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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PLEKHG5

Variant:p.T732_F733del1

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PLEKHG5

NM_001265593.2:p.T732_F733del1

hg38:chr1:6469392 GAAC>G

Associated Papers

Targeted sequencing with expanded gene profile enables high diagnostic yield in non-5q-spinal muscular atrophies.

Karakaya M et al.

Human Mutation, 2018

29858556 (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."