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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:POMGNT1

Variant:p.P293_L294ins7

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POMGNT1

NM_017739.4:p.P293_L294ins7

hg38:chr1:46194276 G>GNNNNNNNNNNNNNNNNNNNNN

Associated Papers

POMGnT1 mutation and phenotypic spectrum in muscle-eye-brain disease.

Diesen C et al.

Journal of Medical Genetics, 2004

15466003 (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."