Varaico: Literature-Extracted Genetic Variants

Gene:FGF13
Variant:p.R11P
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FGF13

NM_004114.5:p.R11P

Associated Papers

Detecting genomic mosaicism in "de novo" genetic epilepsy by amplicon-based deep sequencing.

Chen J et al.

Journal of Human Genetics, 2023

A Heterozygous Variant of FGF13 Caused X-Linked Developmental and Epileptic Encephalopathy 90 in a Chinese Family.

Cheng H et al.

Cytogenetic and Genome Research, 2023

Further evidence of affected females with a heterozygous variant in FGF13 causing X-linked developmental and epileptic encephalopathy 90.

Narayanan DL et al.

European Journal of Medical Genetics, 2022

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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."