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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:MINPP1

Variant:p.W100delFs

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MINPP1

NM_001178118.2:p.W100delFs

hg38:chr10:87513189 TG>T

Associated Papers

MINPP1 prevents intracellular accumulation of the chelator inositol hexakisphosphate and is mutated in Pontocerebellar Hypoplasia.

Ucuncu E et al.

Nature Communications, 2020

33257696 (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."