Varaico: Literature-Extracted Genetic Variants

Gene:KRTAP1-1
Variant:p.S48_C49insFs
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KRTAP1-1

NM_030967.3:p.S48_C49insFs

Associated Papers

Activating mutations in STIM1 and ORAI1 cause overlapping syndromes of tubular myopathy and congenital miosis.

Nesin V et al.

Proceedings of the National Academy of Sciences of the United States of America, 2014

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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."