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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ITPA

Variant:p.N78_P86del0

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ITPA

NM_033453.4:p.N78_P86del0

hg38:chr20:3214028 ATGCCCTTGGAGGGCTCCCCGGCCC>A

Associated Papers

ITPase deficiency causes a Martsolf-like syndrome with a lethal infantile dilated cardiomyopathy.

Handley MT et al.

Plos Genetics, 2019

30856165 (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."