Varaico: Literature-Extracted Genetic Variants

Gene:IFT172
Variant:p.E1522K
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IFT172

NM_015662.3:p.E1522K

Associated Papers

Whole exome sequencing is an efficient, sensitive and specific method for determining the genetic cause of short-rib thoracic dystrophies.

McInerney-Leo AM et al.

Clinical Genetics, 2015

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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."