Varaico: Literature-Extracted Genetic Variants

Gene:GDF5
Variant:p.L176fs
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GDF5

NM_000557.5:p.L176fs

Associated Papers

Sequence variants in GDF5 and TRPS1 underlie brachydactyly and tricho-rhino-phalangeal syndrome type III.

Ullah A et al.

Pediatrics International : Official Journal of the Japan Pediatric Society, 2018

Severe form of neuroblastoma amplified sequence deficiency in an infant with recurrent acute liver failure.

Sunwoo Y et al.

Pediatrics International : Official Journal of the Japan Pediatric Society, 2018

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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."