Varaico: Literature-Extracted Genetic Variants

Gene:POMGNT1
Variant:p.W256R
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POMGNT1

NM_017739.4:p.W256R

Associated Papers

Investigating the Genetic Etiology of Pediatric Patients with Peripheral Hypotonia Using the Next-Generation Sequencing Method.

Eker D et al.

Global Medical Genetics, 2022

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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."