Varaico: Literature-Extracted Genetic Variants

Gene:TSPAN7
Variant:p.P172H
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TSPAN7

NM_004615.4:p.P172H

Associated Papers

Altered Neocortical Gene Expression, Brain Overgrowth and Functional Over-Connectivity in Chd8 Haploinsufficient Mice.

Suetterlin P et al.

Cerebral Cortex (new York, N.y. : 1991), 2018

29668850 (PubMed )
Supplement: bhy058suppl_1.zip › TableS2-S4.xlsx › SFARI_gene-score

Burden of de novo mutations and inherited rare single nucleotide variants in children with sensory processing dysfunction.

Marco EJ et al.

Bmc Medical Genomics, 2018

29801487 (PubMed )
Supplement: 12920_2018_362_MOESM2_ESM.xls › SFARI_ASD_7_9_medProb

Pharmacological Modulation of AMPAR Rescues Intellectual Disability-Like Phenotype in Tm4sf2-/y Mice.

Murru L et al.

Cerebral Cortex (new York, N.y. : 1991), 2017

Autism spectrum disorder causes, mechanisms, and treatments: focus on neuronal synapses.

Won H et al.

Frontiers in Molecular Neuroscience, 2013

Systematic resequencing of X-chromosome synaptic genes in autism spectrum disorder and schizophrenia.

Piton A et al.

Molecular Psychiatry, 2011

Functional variants of TSPAN8 are associated with bipolar disorder and schizophrenia.

Scholz CJ et al.

American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics, 2010

Cysteine residues in the large extracellular loop (EC2) are essential for the function of the stress-regulated glycoprotein M6a.

Fuchsova B et al.

The Journal of Biological Chemistry, 2009

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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."