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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SBF2

Variant:p.L287_L288Splc

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SBF2

NM_030962.4:p.L287_L288Splc

hg38:chr11:9998381 T>C

Associated Papers

Unraveling the genetic landscape of autosomal recessive Charcot-Marie-Tooth neuropathies using a homozygosity mapping approach.

Zimoń M et al.

Neurogenetics, 2015

25231362 (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."