Varaico: Literature-Extracted Genetic Variants

Gene:MECP2
Variant:p.A278T
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MECP2

NM_004992.4:p.A278T

Associated Papers

Exome sequencing in Asian populations identifies low-frequency and rare coding variation influencing Parkinson's disease risk.

Chew EG et al.

Nature Aging, 2025

39572736 (PubMed )
Supplement: 43587_2024_760_MOESM3_ESM.xlsx › Supplementary_Table_12

Discovery of Novel Recurrent Mutations and Clinically Meaningful Subgroups in Nodal Marginal Zone Lymphoma.

Koh J et al.

Cancers, 2020

32585984 (PubMed )
Supplement: cancers-12-01669-s001.zip › NMZL_Suppletab_Koh_et_al_Cancers_rev.xlsx › Table_S2

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 › S_239L

Detection of rarely identified multiple mutations in MECP2 gene do not contribute to enhanced severity in Rett syndrome.

Chapleau CA et al.

American Journal of Medical Genetics. Part A, 2013

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