Publications:

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Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics

Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P

Publication Date: 2023-02-23

Variant appearance in text: GLI3: 2800G>C; Ala934Pro

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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A novel variant of GLI3, p.Asp1514Thrfs*5, is identified in a Chinese family affected by polydactyly.

Molecular Genetics & Genomic Medicine

Wang, Yusi Y; Hao, Xuguang X; Jia, Xueyuan X; Ji, Wei W; Yuan, Shuai S; Gnamey, Estelle Judith Abla EJA; Huang, Min M; Xu, Lidan L; Zhang, Xuelong X; Bai, Jing J; Sun, Wenjing W; Fu, Songbin S; Liu, Yong Y; Wu, Jie J

Publication Date: 2022-07

Variant appearance in text: GLI3: 2800G>C; Ala934Pro

PubMed Link: 35546307

Variant Present in the following documents:

• MGG3-10-e1968-s002.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: GLI3: A934P; rs28933372

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: GLI3: A934P

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 4

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Point mutations in GLI3 lead to misregulation of its subcellular localization.

Plos One

Krauss, Sybille S; So, Joyce J; Hambrock, Melanie M; Köhler, Andrea A; Kunath, Melanie M; Scharff, Constance C; Wessling, Martina M; Grzeschik, Karl-Heinz KH; Schneider, Rainer R; Schweiger, Susann S

Publication Date: 2009-10-15

Variant appearance in text: GLI3: A934P

PubMed Link: 19829694

Variant Present in the following documents:

• Main text

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The Greig cephalopolysyndactyly syndrome.

Orphanet Journal Of Rare Diseases

Biesecker, Leslie G LG

Publication Date: 2008-04-24

Variant appearance in text: GCPS: A934P

PubMed Link: 18435847

Variant Present in the following documents:

• Main text
• 1750-1172-3-10.pdf

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What you can learn from one gene: GLI3.

Journal Of Medical Genetics

Biesecker, L G LG

Publication Date: 2006-06

Variant appearance in text:

PubMed Link: 16740916

Variant Present in the following documents:

• Main text

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