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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SPR

Variant:p.V236A

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SPR

NM_003124.5:p.V236A

hg38:chr2:72891458 T>C

Associated Papers

Dopa-responsive dystonia caused by tyrosine hydroxylase deficiency: Three cases report and literature review.

Dong HY et al.

Medicine, 2020

32872068 (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."