Varaico: Literature-Extracted Genetic Variants

Gene:P3H2
Variant:p.K480R
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P3H2

NM_001134418.2:p.K480R

Associated Papers

Mutational screening of SLC39A5, LEPREL1 and LRPAP1 in a cohort of 187 high myopia patients.

Feng CY et al.

Scientific Reports, 2017

Identification of a novel missense mutation of MIP in a Chinese family with congenital cataracts by target region capture sequencing.

Jiang B et al.

Scientific Reports, 2017

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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."