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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:TBCE

Variant:p.C371Y

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TBCE

NM_003193.5:p.C371Y

hg38:chr1:235437470 G>A

Associated Papers

Novel Loss-of-Function Mutations in NPR2 Cause Acromesomelic Dysplasia, Maroteaux Type.

Wu J et al.

Frontiers in Genetics, 2022

35368703 (PubMed )

Supplement: DataSheet2.docx

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