Varaico: Literature-Extracted Genetic Variants

Gene:MECP2
Variant:p.K212*
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MECP2

NM_001110792.2:p.K212*

Associated Papers

A Gain-of-Function Variant in Dopamine D2 Receptor and Progressive Chorea and Dystonia Phenotype.

van der Weijden MCM et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2021

33200438 (PubMed )
Supplement: MDS-36-729-s002.docx

Suppressor mutations in Mecp2-null mice implicate the DNA damage response in Rett syndrome pathology.

Enikanolaiye A et al.

Genome Research, 2020

32317254 (PubMed )
Supplement: supp_gr.258400.119_Supplemental_Table_S1_.xlsx › A_252LL
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