Varaico: Literature-Extracted Genetic Variants

Gene:SRY
Variant:p.A104D
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SRY

NM_003140.3:p.A104D

Associated Papers

The human UNP locus at 3p21.31 encodes two tissue-selective, cytoplasmic isoforms with deubiquitinating activity that have reduced expression in small cell lung carcinoma cell lines.

Frederick A et al.

Oncogene, 1998

Identical SRY mutations with different phenotypic effects.

Mittwoch U

American Journal of Human Genetics, 1993

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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."