Varaico: Literature-Extracted Genetic Variants

Gene:ELFN1
Variant:p.D678N
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ELFN1

NM_001128636.4:p.D678N

Associated Papers

GRM7 gene mutations and consequences for neurodevelopment.

Freitas GA et al.

Pharmacology, Biochemistry, and Behavior, 2023

Exome sequencing identifies novel and known mutations in families with intellectual disability.

Rasheed M et al.

Bmc Medical Genomics, 2021

Trans-Synaptic Regulation of Metabotropic Glutamate Receptors by Elfn Proteins in Health and Disease.

Matsunaga H et al.

Frontiers in Neural Circuits, 2021

Elfn1 recruits presynaptic mGluR7 in trans and its loss results in seizures.

Tomioka NH et al.

Nature Communications, 2014

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