Varaico: Literature-Extracted Genetic Variants

Gene:TLL2
Variant:p.E38Q
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TLL2

NM_012465.4:p.E38Q

Associated Papers

Genomic analysis of a spinal muscular atrophy (SMA) discordant family identifies a novel mutation in TLL2, an activator of growth differentiation factor 8 (myostatin): a case report.

Jiang J et al.

Bmc Medical Genetics, 2019

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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."