Varaico: Literature-Extracted Genetic Variants

Gene:IFT172
Variant:p.L1536P
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IFT172

NM_015662.3:p.L1536P

Associated Papers

Defects in the IFT-B component IFT172 cause Jeune and Mainzer-Saldino syndromes in humans.

Halbritter J et al.

American Journal of Human Genetics, 2013

Short rib thoracic dysplasia without polydactyly due to novel variant in IFT172 gene.

Mhatre S et al.

Journal of Postgraduate Medicine, 0

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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."