Genome-wide association study of café-au-lait macule number in neurofibromatosis type 1.

Mol Genet Genomic Med · 2020 · PMC7549607 · PMID 32869517

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borderline significantno p-value reported

Targeted sequencing of RPS6KA2 Because of the marginally/borderline significant associations in the intronic region of RPS6KA2 in the CALM1 cohort GWAS, ~24 Kb (chr6:166,995,059–167,018,915) of intron 1 of RPS6KA2 was sequenced (transcript variant 1, NM_021135.6 ) in order to investigate other possible variants.

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