Varaico: Literature-Extracted Genetic Variants

Gene:IGSF1
Variant:p.E166D
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IGSF1

NM_001555.5:p.E166D

Associated Papers

Three Unrelated Children With Childhood Apraxia of Speech: Exome Sequencing and Functional Gene Analysis Imply a Role of Laminin-511 in Early Neurodevelopment.

Raaz C et al.

Case Reports in Genetics, 2026

PRIMA-1MET-induced neuroblastoma cell death is modulated by p53 and mycn through glutathione level.

Mlakar V et al.

Journal of Experimental & Clinical Cancer Research : Cr, 2019

30755224 (PubMed )
Supplement: 13046_2019_1066_MOESM1_ESM.xlsx › LAN6

Clues for Polygenic Inheritance of Pituitary Stalk Interruption Syndrome From Exome Sequencing in 20 Patients.

Zwaveling-Soonawala N et al.

The Journal of Clinical Endocrinology and Metabolism, 2018

A probabilistic model to predict clinical phenotypic traits from genome sequencing.

Chen YC et al.

Plos Computational Biology, 2014

25188385 (PubMed )
Supplement: pcbi.1003825.s014.xlsx › TableS12
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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."