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However, the major genetic causes in the majority of EOPD patients in our population are still unclear.
The three major genetic causes of FTLD are mutations in MAPT [ 16, 23, 27], GRN [ 4, 9], and C9orf72 [ 10, 13, 25].
In addition, gene copy number variants (CNVs) of KCTD13 mapping to chromosomal location 16p11.2 are considered to be major genetic causes of macrocephaly and microcephaly.
CNVs are one of the major genetic causes of human diseases [ 11]; therefore, it is imperative to carefully investigate possible CNV instability during somatic reprogramming before using iPSCs in a clinical or therapeutic setting.
Notably, it was recently reported that reprogramming from somatic cells to iPSCs can induce genomic copy number variation (CNV), which is one of the major genetic causes of human diseases.
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Y-chromosomal microdeletions (YCMD) are the major genetic cause of male infertility.
SNPs are believed to be the major genetic cause to human phenotypic variability.
Y-chromosomal microdeletions (YCMD) are the major genetic cause for primary spermatogenic failure.
A hexanucleotide (GGGGCC) repeat expansion in a non-coding region of C9ORF72 is the major genetic cause of both diseases.
In contrast, none of the indels affected protein-coding sequence, suggesting that SBSs may be a major genetic cause of somaclonal variation.
Mutation in chromosome 9 open reading frame 72 (C9orf72) is a major genetic cause of frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS), referred to as C9FTD/ALS.
Related(20)
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