Varaico: Literature-Extracted Genetic Variants

Gene:STK36
Variant:p.P957fs
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STK36

NM_001243313.2:p.P957fs

Associated Papers

The expanding phenotype of OFD1-related disorders: Hemizygous loss-of-function variants in three patients with primary ciliary dyskinesia.

Hannah WB et al.

Molecular Genetics & Genomic Medicine, 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."