Publications:

Pathogenic neurofibromatosis type 1 (NF1) RNA splicing resolved by targeted RNAseq.

Npj Genomic Medicine

Koster, R R; Brandão, R D RD; Tserpelis, D D; van Roozendaal, C E P CEP; van Oosterhoud, C N CN; Claes, K B M KBM; Paulussen, A D C ADC; Sinnema, M M; Vreeburg, M M; van der Schoot, V V; Stumpel, C T R M CTRM; Broen, M P G MPG; Spruijt, L L; Jongmans, M C J MCJ; Lesnik Oberstein, S A J SAJ; Plomp, A S AS; Misra-Isrie, M M; Duijkers, F A FA; Louwers, M J MJ; Szklarczyk, R R; Derks, K W J KWJ; Brunner, H G HG; van den Wijngaard, A A; van Geel, M M; Blok, M J MJ

Publication Date: 2021-11-15

Variant appearance in text: 225: 1003del

PubMed Link: 34782607

Variant Present in the following documents:

• 41525_2021_258_MOESM2_ESM.xlsx, sheet 1

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EMQN best practice guidelines for molecular genetic testing and reporting of 21-hydroxylase deficiency.

European Journal Of Human Genetics : Ejhg

Baumgartner-Parzer, Sabina S; Witsch-Baumgartner, Martina M; Hoeppner, Wolfgang W

Publication Date: 2020-10

Variant appearance in text: 225: 1003del

PubMed Link: 32616876

Variant Present in the following documents:

• Main text
• 41431_2020_Article_653.pdf

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