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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PCYT2

Variant:p.R377Q

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PCYT2

NM_001184917.3:p.R377Q

hg38:chr17:81904927 C>T

Associated Papers

A novel PCYT2 mutation identified in a Chinese consanguineous family with hereditary spastic paraplegia.

Wei Q et al.

Journal of Genetics and Genomics = Yi Chuan Xue Bao, 2021

34384721 (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."