Publications:

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: COL4A5: 446del; Pro149fs

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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X-Linked Alport Syndrome in Women: Genotype and Clinical Course in 24 Cases.

Frontiers In Medicine

Mastrangelo, Antonio A; Giani, Marisa M; Groppali, Elena E; Castorina, Pierangela P; Soldà, Giulia G; Robusto, Michela M; Fallerini, Chiara C; Bruttini, Mirella M; Renieri, Alessandra A; Montini, Giovanni G

Publication Date: 2020

Variant appearance in text: COL4A5: 446del; Pro149Leufs

PubMed Link: 33330536

Variant Present in the following documents:

• Main text
• fmed-07-580376.pdf

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Genotype-phenotype correlation and prognostic impact in Chinese patients with Alport Syndrome.

Molecular Genetics & Genomic Medicine

Shang, Shunlai S; Peng, Fei F; Wang, Tao T; Wu, Xiaoyuan X; Li, Ping P; Li, Qinggang Q; Chen, Xiang M XM

Publication Date: 2019-07

Variant appearance in text: COL4A5: 446del

PubMed Link: 31144478

Variant Present in the following documents:

• Main text
• MGG3-7-e00741.pdf

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Elucidating the pathogenesis of synchronous and metachronous tumors in a woman with endometrioid carcinomas using a whole-exome sequencing approach.

Cold Spring Harbor Molecular Case Studies

Wu, Ren-Chin RC; Veras, Ema E; Lin, Jeffrey J; Gerry, Emily E; Bahadirli-Talbott, Asli A; Baras, Alexander A; Ayhan, Ayse A; Shih, Ie-Ming IM; Wang, Tian-Li TL

Publication Date: 2017-11

Variant appearance in text: COL4A5: 442delC; P149Lfs*6

PubMed Link: 29162652

Variant Present in the following documents:

• supp_mcs.a001693_Supplemental_Table_2.xlsx, sheet 1

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