Varaico: Literature-Extracted Genetic Variants

Gene:OCRL
Variant:p.R241Splc
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OCRL

NM_000276.4:p.R241Splc

Associated Papers

RT-PCR analysis of mRNA revealed the splice-altering effect of rare intronic variants in monogenic disorders.

Zhang X et al.

Annals of Human Genetics, 2020

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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."