Varaico: Literature-Extracted Genetic Variants

Gene:SZT2
Variant:p.K963E
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SZT2

NM_001365999.1:p.K963E

Associated Papers

Insight into Genetic Mutations of SZT2: Is It a Syndrome?

Muthaffar OY et al.

Biomedicines, 2023

SZT2 variants associated with partial epilepsy or epileptic encephalopathy and the genotype-phenotype correlation.

Luo S et al.

Frontiers in Molecular Neuroscience, 2023

Genetic analysis of developmental and epileptic encephalopathy caused by novel biallelic SZT2 gene mutations in three Chinese Han infants: a case series and literature review.

Yang S et al.

Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2022

Genetic and phenotypic spectrum of Chinese patients with epilepsy and photosensitivity.

Niu Y et al.

Frontiers in Neurology, 2022

Evaluation of FGFR targeting in breast cancer through interrogation of patient-derived models.

Chew NJ et al.

Breast Cancer Research : Bcr, 2021

34344433 (PubMed )
Supplement: 13058_2021_1461_MOESM7_ESM.xlsx › KCC_P_4043_Tumour
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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."