Varaico: Literature-Extracted Genetic Variants

Gene:NHLRC2
Variant:p.I317T
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NHLRC2

NM_198514.4:p.I317T

Associated Papers

Genetic analysis of neurodevelopmental disorders in children.

Wu D et al.

Frontiers in Child and Adolescent Psychiatry, 2022

Whole exome sequencing of a family revealed a novel variant in the CHM gene, c.22delG p.(Glu8Serfs*4), which co-segregated with choroideremia.

Dan H et al.

Bioscience Reports, 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."