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A mosaic maternal splice donor mutation in the EHMT1 gene leads to aberrant transcripts and to Kleefstra syndrome in the offspring

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Last updated 22 fevereiro 2025
A mosaic maternal splice donor mutation in the EHMT1 gene leads to aberrant transcripts and to Kleefstra syndrome in the offspring
A mosaic maternal splice donor mutation in the EHMT1 gene leads to aberrant transcripts and to Kleefstra syndrome in the offspring
Detection of germline mosaicism in fathers of children with
A mosaic maternal splice donor mutation in the EHMT1 gene leads to aberrant transcripts and to Kleefstra syndrome in the offspring
Abstracts from the 55th European Society of Human Genetics (ESHG
A mosaic maternal splice donor mutation in the EHMT1 gene leads to aberrant transcripts and to Kleefstra syndrome in the offspring
A Mosaic Maternal Splice Donor Mutation In The EHMT1 Gene, 59% OFF
A mosaic maternal splice donor mutation in the EHMT1 gene leads to aberrant transcripts and to Kleefstra syndrome in the offspring
A mosaic maternal splice donor mutation in the EHMT1 gene leads to
A mosaic maternal splice donor mutation in the EHMT1 gene leads to aberrant transcripts and to Kleefstra syndrome in the offspring
Postzygotic single-nucleotide mosaicisms in whole-genome sequences
A mosaic maternal splice donor mutation in the EHMT1 gene leads to aberrant transcripts and to Kleefstra syndrome in the offspring
A Mosaic Maternal Splice Donor Mutation In The EHMT1 Gene, 59% OFF
A mosaic maternal splice donor mutation in the EHMT1 gene leads to aberrant transcripts and to Kleefstra syndrome in the offspring
PDF) Cytogenetic and Molecular Genetic Characterization of
A mosaic maternal splice donor mutation in the EHMT1 gene leads to aberrant transcripts and to Kleefstra syndrome in the offspring
A Mosaic Maternal Splice Donor Mutation In The EHMT1 Gene, 59% OFF
A mosaic maternal splice donor mutation in the EHMT1 gene leads to aberrant transcripts and to Kleefstra syndrome in the offspring
Using whole-exome sequencing to identify variants inherited from
A mosaic maternal splice donor mutation in the EHMT1 gene leads to aberrant transcripts and to Kleefstra syndrome in the offspring
Short Report in 2012 European Journal of Human Genetics
A mosaic maternal splice donor mutation in the EHMT1 gene leads to aberrant transcripts and to Kleefstra syndrome in the offspring
PDF) A de novo splice site mutation in EHMT1 resulting in
A mosaic maternal splice donor mutation in the EHMT1 gene leads to aberrant transcripts and to Kleefstra syndrome in the offspring
EHMT1 Gene - GeneCards, EHMT1 Protein
A mosaic maternal splice donor mutation in the EHMT1 gene leads to aberrant transcripts and to Kleefstra syndrome in the offspring
PDF) A Novel Kleefstra Syndrome Associated Variant that Affects
A mosaic maternal splice donor mutation in the EHMT1 gene leads to aberrant transcripts and to Kleefstra syndrome in the offspring
A mosaic maternal splice donor mutation in the EHMT1 gene leads to
A mosaic maternal splice donor mutation in the EHMT1 gene leads to aberrant transcripts and to Kleefstra syndrome in the offspring
A Mosaic Maternal Splice Donor Mutation In The EHMT1 Gene, 59% OFF
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