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: 1022del

PubMed Link: 34782607

Variant Present in the following documents:

• 41525_2021_258_MOESM2_ESM.xlsx, sheet 1

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KCNJ10 may not be a contributor to nonsyndromic enlargement of vestibular aqueduct (NSEVA) in Chinese subjects.

Plos One

Zhao, Jiandong J; Yuan, Yongyi Y; Huang, Shasha S; Huang, Bangqing B; Cheng, Jing J; Kang, Dongyang D; Wang, Guojian G; Han, Dongyi D; Dai, Pu P

Publication Date: 2014

Variant appearance in text: 225: 1022delC

PubMed Link: 25372295

Variant Present in the following documents:

• Main text
• pone.0108134.pdf

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