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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:GYS2

Variant:p.C500*

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GYS2

NM_021957.4:p.C500*

hg38:chr12:21546393 A>T

Associated Papers

NEXMIF pathogenic variant in a female child with epilepsy and multiple organ failure: a case report.

Wang L et al.

Translational Pediatrics, 2023

37427056 (PubMed )

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