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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:MCCC1

Variant:p.P201S

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MCCC1

NM_020166.5:p.P201S

hg38:chr3:183071248 G>A

Associated Papers

Seizures and Cerebellar Calcification in a Child with Autoimmune Polyendocrine Syndrome 3A.

Peterson RR et al.

Indian Pediatrics, 2018

29978826 (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."