Publications:

Targeted sequencing and integrative analysis to prioritize candidate genes in neurodevelopmental disorders.

Molecular Neurobiology

Zhang, Yi Y; Wang, Tao T; Wang, Yan Y; Xia, Kun K; Li, Jinchen J; Sun, Zhongsheng Z

Publication Date: 2021-08

Variant appearance in text: TSC2: 2140C>T

PubMed Link: 33860439

Variant Present in the following documents:

• 12035_2021_2377_MOESM8_ESM.xlsx, sheet 1

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Matching clinical and genetic diagnoses in autosomal dominant polycystic kidney disease reveals novel phenocopies and potential candidate genes.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Schönauer, Ria R; Baatz, Sebastian S; Nemitz-Kliemchen, Melanie M; Frank, Valeska V; Petzold, Friederike F; Sewerin, Sebastian S; Popp, Bernt B; Münch, Johannes J; Neuber, Steffen S; Bergmann, Carsten C; Halbritter, Jan J

Publication Date: 2020-08

Variant appearance in text: TSC2: 2140C>T

PubMed Link: 32398770

Variant Present in the following documents:

• Main text
• 41436_2020_Article_816.pdf

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