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Varaico: Literature-Extracted Genetic Variants
hg38
Include likely false extractions
Gene:
MECP2
Variant:
p.H51Q
Back to variants list
MECP2
NM_004992.4:p.H51Q
hg38:chrX:154032431 G>C
Frequencies & domains
Associated Papers
Novel non-identical MECP2 mutations in Rett syndrome family: a rare presentation.
Khajuria R et al.
Brain & Development,
2012
21300488 (PubMed
)
Novel human pathological mutations. Gene symbol: MECP2. Disease: Rett Syndrome.
Khajuria R et al.
Human Genetics,
2010
20108394 (PubMed
)
Novel human pathological mutations. Gene symbol: MECP2. Disease: Rett Syndrome.
Khajuria R et al.
Human Genetics,
2010
20108429 (PubMed
)
Novel human pathological mutations. Gene symbol: MECP2. Disease: Rett Syndrome.
Khajuria R et al.
Human Genetics,
2010
20108430 (PubMed
)
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