Publications:

A novel frameshift mutation in the FGD1 gene causing Aarskog-Scott syndrome patient with hypogonadism: a case report.

Translational Pediatrics

Jia, Hongshuai H; Ma, Tiantian T; Liu, Ziqin Z; Ouyang, Yuru Y; Hao, Chunsheng C

Publication Date: 2021-05

Variant appearance in text: FGD1: 1829G>A; R610Q

PubMed Link: 34189097

Variant Present in the following documents:

• Main text
• tp-10-05-1377.pdf

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Whole-exome mutational landscape of neuroendocrine carcinomas of the gallbladder.

Signal Transduction And Targeted Therapy

Liu, Fatao F; Li, Yongsheng Y; Ying, Dongjian D; Qiu, Shimei S; He, Yong Y; Li, Maolan M; Liu, Yun Y; Zhang, Yijian Y; Zhu, Qin Q; Hu, Yunping Y; Liu, Liguo L; Li, Guoqiang G; Pan, Weihua W; Jin, Wei W; Mu, Jiasheng J; Cao, Yang Y; Liu, Yingbin Y

Publication Date: 2021-02-10

Variant appearance in text: FGD1: 1829G>A; Arg610Gln; rs28935497

PubMed Link: 33563892

Variant Present in the following documents:

• 41392_2020_412_MOESM17_ESM.xlsx, sheet 1
• 41392_2020_412_MOESM7_ESM.xlsx, sheet 1

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Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One

Holehouse, Alex S AS; Naegle, Kristen M KM

Publication Date: 2015

Variant appearance in text: rs28935497

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

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GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: FGD1: R610Q

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 2

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MLK3 regulates bone development downstream of the faciogenital dysplasia protein FGD1 in mice.

The Journal Of Clinical Investigation

Zou, Weiguo W; Greenblatt, Matthew B MB; Shim, Jae-Hyuck JH; Kant, Shashi S; Zhai, Bo B; Lotinun, Sutada S; Brady, Nicholas N; Hu, Dorothy Zhang DZ; Gygi, Steven P SP; Baron, Roland R; Davis, Roger J RJ; Jones, Dallas D; Glimcher, Laurie H LH

Publication Date: 2011-11

Variant appearance in text: FGDY: R610Q

PubMed Link: 21965325

Variant Present in the following documents:

• Main text

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