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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PRKRA

Variant:p.S235T

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PRKRA

NM_003690.5:p.S235T

hg38:chr2:178436225 C>G

Associated Papers

Dissecting genetic architecture of rare dystonia: genetic, molecular and clinical insights.

Atasu B et al.

Journal of Medical Genetics, 2024

38458754 (PubMed )

Deep sequencing reveals 50 novel genes for recessive cognitive disorders.

Najmabadi H et al.

Nature, 2011

21937992 (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."