Varaico: Literature-Extracted Genetic Variants

Gene:MECP2
Variant:p.Q28*
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MECP2

NM_001110792.2:p.Q28*

Associated Papers

Unraveling the mysteries of early embryonic arrest: genetic factors and molecular mechanisms.

Zhang J et al.

Journal of Assisted Reproduction and Genetics, 2024

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 › 4751

Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing.

Redin C et al.

Journal of Medical Genetics, 2014

25167861 (PubMed )
Supplement: jmedgenet-2014-102554-s2.pdf
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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."