Varaico: Literature-Extracted Genetic Variants

Gene:IMPDH1
Variant:p.T201M
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IMPDH1

NM_000883.4:p.T201M

Associated Papers

CAGI SickKids challenges: Assessment of phenotype and variant predictions derived from clinical and genomic data of children with undiagnosed diseases.

Kasak L et al.

Human Mutation, 2019

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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."