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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PIGM

Variant:p.G23D

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PIGM

NM_145167.3:p.G23D

hg38:chr1:160031672 C>T

Associated Papers

Biallelic PIGM Coding Variant Causes Intractable Epilepsy and Intellectual Disability Without Thrombotic Events.

Heimer G et al.

Clinical Genetics, 2025

39425582 (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."