Publications:

Congenital anomalies and genetic disorders in neonates and infants: a single-center observational cohort study.

European Journal Of Pediatrics

Marouane, A A; Olde Keizer, R A C M RACM; Frederix, G W J GWJ; Vissers, L E L M LELM; de Boode, W P WP; van Zelst-Stams, W A G WAG

Publication Date: 2022-01

Variant appearance in text: TSC2: 4422_4423del; Arg1474Serfs*49

PubMed Link: 34347148

Variant Present in the following documents:

• 431_2021_4213_MOESM3_ESM.xlsx, sheet 3

View BVdb publication page

Mutation spectrums of TSC1 and TSC2 in Chinese women with lymphangioleiomyomatosis (LAM).

Plos One

Liu, Jie J; Zhao, Weiwei W; Ou, Xiaohua X; Zhao, Zhen Z; Hu, Changming C; Sun, Mingming M; Liu, Feifei F; Deng, Junhao J; Gu, Weili W; An, Jiaying J; Zhang, Qingling Q; Zhang, Xiaoxian X; Xie, Jiaxing J; Li, Shiyue S; Chen, Rongchang R; Yu, Shihui S; Zhong, Nanshan N

Publication Date: 2019

Variant appearance in text: TSC2: 4422_4423del; Arg1474Serfs*49

PubMed Link: 31856217

Variant Present in the following documents:

• pone.0226400.s008.xlsx, sheet 1
• pone.0226400.s004.xlsx, sheet 4

View BVdb publication page