Varaico: Literature-Extracted Genetic Variants

Gene:GUCY2D
Variant:p.A49fs
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GUCY2D

NM_000180.4:p.A49fs

Associated Papers

The pathogenicity of novel GUCY2D mutations in Leber congenital amaurosis 1 assessed by HPLC-MS/MS.

Feng X et al.

Plos One, 2020

[Methodological study for detecting gene mutation of family with genotyping of compound heterogenicity of SEA alpha-thalassemia 1 and HbCS].

Chen J et al.

Zhongguo Shi Yan Xue Ye Xue Za Zhi, 2010

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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."