Varaico: Literature-Extracted Genetic Variants

Gene:CLTC
Variant:p.C1260R
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CLTC

NM_004859.4:p.C1260R

Associated Papers

Systematic analysis of inheritance pattern determination in genes that cause rare neurodevelopmental diseases.

Park S et al.

Frontiers in Genetics, 2022

36212160 (PubMed )
Supplement: DataSheet2.xlsx › Table_S2

GABBR2 mutations determine phenotype in rett syndrome and epileptic encephalopathy.

Yoo Y et al.

Annals of Neurology, 2017

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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."