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: L1CAM: 1108G>A; Gly370Arg

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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L1 Syndrome Prenatal Diagnosis Supplemented by Functional Analysis of One L1CAM Gene Missense Variant.

Reproductive Sciences (Thousand Oaks, Calif.)

Wang, Ping P; Liao, Hong H; Wang, Quyou Q; Xie, Hanbing H; Wang, He H; Yang, Mei M; Liu, Shanling S

Publication Date: 2022-03

Variant appearance in text: L1CAM: 1108G>A

PubMed Link: 34914080

Variant Present in the following documents:

• Main text
• 43032_2021_Article_828.pdf

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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: HSAS: G370R

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: L1CAM: G370R

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 4

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Homophilic interaction of the L1 family of cell adhesion molecules.

Experimental & Molecular Medicine

Wei, Chun Hua CH; Ryu, Seong Eon SE

Publication Date: 2012-07-31

Variant appearance in text: HSAS: G370R

PubMed Link: 22573111

Variant Present in the following documents:

• emm-44-413.pdf

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Homophilic adhesion mechanism of neurofascin, a member of the L1 family of neural cell adhesion molecules.

The Journal Of Biological Chemistry

Liu, Heli H; Focia, Pamela J PJ; He, Xiaolin X

Publication Date: 2011-01-07

Variant appearance in text: HSAS: G370R

PubMed Link: 21047790

Variant Present in the following documents:

• Main text

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