Varaico: Literature-Extracted Genetic Variants

Gene:POMGNT1
Variant:p.I337T
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POMGNT1

NM_017739.4:p.I337T

Associated Papers

Case Series on Autosomal Recessive Non-Syndromic Retinitis Pigmentosa Caused by POMGNT1 Mutations with a Report of a New Variant.

Patel A et al.

Journal of Clinical Medicine, 2023

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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."