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- W3156244562 abstract "Although large expansions of the non-coding GGGGCC repeat in C9orf72 gene are clearly defined as pathogenic for Amyotrophic Lateral Sclerosis (ALS) and Frontotemporal Lobar Degeneration (FTLD), intermediate-length expansions have also been associated with those and other neurodegenerative diseases. Intermediate-length allele sizing is complicated by intrinsic properties of current PCR-based methodologies, in that somatic mosaicism could be suspected. We designed a protocol that allows the exact sizing of intermediate-length alleles, as well as the identification of large expansions." @default.
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- W3156244562 date "2021-04-01" @default.
- W3156244562 modified "2023-09-25" @default.
- W3156244562 title "Buccal swab testing with the AmplideX PCR/CE SMN1/2 Plus Kit that assesses copy number and critical mutations for SMA" @default.
- W3156244562 doi "https://doi.org/10.1016/s1096-7192(21)00499-6" @default.
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