Varaico: Literature-Extracted Genetic Variants

Gene:TBCE
Variant:p.Q318*
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TBCE

NM_003193.5:p.Q318*

Associated Papers

Data on the 21-Hydroxylase deficient CAH patients and the identification of known/novel mutations in CYP21A2 gene.

Khajuria R et al.

Data in Brief, 2017

The spectrum of CYP21A2 mutations in Congenital Adrenal Hyperplasia in an Indian cohort.

Khajuria R et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2017

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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."