Varaico: Literature-Extracted Genetic Variants

Gene:STKLD1
Variant:p.Y28*
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STKLD1

NM_153710.5:p.Y28*

Associated Papers

Whole-exome sequencing revealed a nonsense mutation in STKLD1 causing non-syndromic pre-axial polydactyly type A affecting only upper limb.

Umair M et al.

Clinical 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."