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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:TCHP

Variant:p.A341P

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TCHP

NM_001143852.2:p.A341P

hg38:chr12:109911204 G>C

Associated Papers

NLRC4 GOF Mutations, a Challenging Diagnosis from Neonatal Age to Adulthood.

Bardet J et al.

Journal of Clinical Medicine, 2021

34640385 (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."