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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:BICD2

Variant:p.Q127R

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BICD2

NM_001003800.2:p.Q127R

hg38:chr9:92729097 T>C

Associated Papers

Genetic characterization of non-5q proximal spinal muscular atrophy in a French cohort: the place of whole exome sequencing.

Theuriet J et al.

European Journal of Human Genetics : Ejhg, 2024

37337091 (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."