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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:LRPPRC

Variant:p.S76A

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LRPPRC

NM_133259.4:p.S76A

hg38:chr2:43982358 A>C

Associated Papers

Crisponi/cold-induced sweating syndrome: Differential diagnosis, pathogenesis and treatment concepts.

Buers I et al.

Clinical Genetics, 2020

31497877 (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."