Varaico: Literature-Extracted Genetic Variants

Gene:PHIP
Variant:p.I307fs
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PHIP

NM_017934.7:p.I307fs

Associated Papers

Genome-wide rare variant score associates with morphological subtypes of autism spectrum disorder.

Chan AJS et al.

Nature Communications, 2022

36309498 (PubMed )
Supplement: 41467_2022_34112_MOESM4_ESM.xlsx › SupData_17

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

PHIP gene variants with protein modeling, interactions, and clinical phenotypes.

Dietrich J et al.

American Journal of Medical Genetics. Part A, 2022

Cellular stressors contribute to the expansion of hematopoietic clones of varying leukemic potential.

Wong TN et al.

Nature Communications, 2018

29386642 (PubMed )
Supplement: 41467_2018_2858_MOESM8_ESM.xlsx › TAML-TMDS
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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."