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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SUOX

Variant:p.P370S

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SUOX

NM_001032386.2:p.P370S

hg38:chr12:56004497 C>T

Associated Papers

Asparagine Synthetase Deficiency with Intracranial Hemorrhage Can Mimic Molybdenum Cofactor Deficiency.

Abdel-Salam GMH et al.

Neuropediatrics, 2021

33271615 (PubMed )

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