Varaico: Literature-Extracted Genetic Variants

Gene:SNRNP200
Variant:p.L1114P
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SNRNP200

NM_014014.5:p.L1114P

Associated Papers

Generation of two induced pluripotent stem cell lines from a patient with recessive inherited retinal disease caused by compound heterozygous mutations in SNRNP200.

Zhang D et al.

Stem Cell Research, 2021

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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."