Varaico: Literature-Extracted Genetic Variants

Gene:DES
Variant:p.A213_D214Splc
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DES

NM_001927.4:p.A213_D214Splc

Associated Papers

Biallelic disruption of PKDCC is associated with a skeletal disorder characterised by rhizomelic shortening of extremities and dysmorphic features.

Sajan SA et al.

Journal of Medical Genetics, 2019

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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."