Varaico: Literature-Extracted Genetic Variants

Gene:PHIP
Variant:p.Q1263E
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PHIP

NM_017934.7:p.Q1263E

Associated Papers

PHIP variants associated with Chung-Jansen syndrome disrupt replication fork stability and genome integrity.

Tirado-Class N et al.

Cold Spring Harbor Molecular Case Studies, 2022

A trivalent nucleosome interaction by PHIP/BRWD2 is disrupted in neurodevelopmental disorders and cancer.

Morgan MAJ et al.

Genes & Development, 2021

Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders.

Wang T et al.

Nature Communications, 2020

33004838 (PubMed )
Supplement: 41467_2020_18723_MOESM10_ESM.xlsx › Supplementary_Data_8

Clinical and genetic characterization of individuals with predicted deleterious PHIP variants.

Craddock KE et al.

Cold Spring Harbor Molecular Case Studies, 2019

De novo genic mutations among a Chinese autism spectrum disorder cohort.

Wang T et al.

Nature Communications, 2016

27824329 (PubMed )
Supplement: ncomms13316-s7.xlsx › Supplementary_Data_6
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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."