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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SPR

Variant:p.M1L

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SPR

NM_003124.5:p.M1L

hg38:chr2:72887433 A>C

Associated Papers

Whole-exome sequencing in a cohort of Chinese patients with isolated cervical dystonia.

Wu R et al.

Heliyon, 2024

38845987 (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."