Varaico: Literature-Extracted Genetic Variants

Gene:TAF1L
Variant:p.K1094E
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TAF1L

NM_153809.2:p.K1094E

Associated Papers

Whole-genome DNA/RNA sequencing identifies truncating mutations in RBCK1 in a novel Mendelian disease with neuromuscular and cardiac involvement.

Wang K et al.

Genome Medicine, 2013

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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."