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: CFTR: 1037T>C; Leu346Pro

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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Organoid Technology and Its Role for Theratyping Applications in Cystic Fibrosis.

Children (Basel, Switzerland)

Conti, Jessica J; Sorio, Claudio C; Melotti, Paola P

Publication Date: 2022-12-20

Variant appearance in text: CFTR: L346P

PubMed Link: 36670555

Variant Present in the following documents:

• children-10-00004.pdf

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Translational Research in Cystic Fibrosis: From Bench to Beside.

Frontiers In Pediatrics

Garcia, Laura de Castro E LCE; Petry, Lucas Montiel LM; Germani, Pedro Augusto Van Der Sand PAVS; Xavier, Luiza Fernandes LF; de Barros, Paula Barros PB; Meneses, Amanda da Silva ADS; Prestes, Laura Menestrino LM; Bittencourt, Luana Braga LB; Pieta, Marina Puerari MP; Friedrich, Frederico F; Pinto, Leonardo Araújo LA

Publication Date: 2022

Variant appearance in text: CFTR: L346P

PubMed Link: 35652053

Variant Present in the following documents:

• Main text
• fped-10-881470.pdf

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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: CFTR: L346P

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 4

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Incidental Finding of a Homozygous p.M348K Asymptomatic Italian Patient Confirms the Many Faces of Cystic Fibrosis.

Case Reports In Genetics

Molinario, Rossana R; Palumbo, Sara S; Concolino, Paola P; Rocchetti, Sandro S; Rizza, Roberta R; Scaglione, Giovanni Luca GL; Minucci, Angelo A; Capoluongo, Ettore E

Publication Date: 2015

Variant appearance in text: CFTR: L346P

PubMed Link: 25922769

Variant Present in the following documents:

• Main text
• CRIG2015-289627.pdf

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Influence of Pathogenic Mutations on the Energetics of Translocon-Mediated Bilayer Integration of Transmembrane Helices.

The Journal Of Membrane Biology

Schlebach, Jonathan P JP; Sanders, Charles R CR

Publication Date: 2015-06

Variant appearance in text: CFTR: L346P

PubMed Link: 25192979

Variant Present in the following documents:

• Main text

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Prerenal azotemia from excessive sweating in an adult with a cystic fibrosis gene mutation.

Indian Journal Of Nephrology

Tomov, S V SV; Flume, P A PA; Stenbit, A E AE; Ullian, M E ME

Publication Date: 2011-07

Variant appearance in text: CFTR: L346P

PubMed Link: 21886981

Variant Present in the following documents:

• Main text

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Cooperative assembly and misfolding of CFTR domains in vivo.

Molecular Biology Of The Cell

Du, Kai K; Lukacs, Gergely L GL

Publication Date: 2009-04

Variant appearance in text: CFTR: L346P

PubMed Link: 19176754

Variant Present in the following documents:

• Main text

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Consensus on the use and interpretation of cystic fibrosis mutation analysis in clinical practice.

Journal Of Cystic Fibrosis : Official Journal Of The European Cystic Fibrosis Society

Castellani, C C; Cuppens, H H; Macek, M M; Cassiman, J J JJ; Kerem, E E; Durie, P P; Tullis, E E; Assael, B M BM; Bombieri, C C; Brown, A A; Casals, T T; Claustres, M M; Cutting, G R GR; Dequeker, E E; Dodge, J J; Doull, I I; Farrell, P P; Ferec, C C; Girodon, E E; Johannesson, M M; Kerem, B B; Knowles, M M; Munck, A A; Pignatti, P F PF; Radojkovic, D D; Rizzotti, P P; Schwarz, M M; Stuhrmann, M M; Tzetis, M M; Zielenski, J J; Elborn, J S JS

Publication Date: 2008-05

Variant appearance in text: CFTR: L346P

PubMed Link: 18456578

Variant Present in the following documents:

• Main text

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Genotyping microarray for the detection of more than 200 CFTR mutations in ethnically diverse populations.

The Journal Of Molecular Diagnostics : Jmd

Schrijver, Iris I; Oitmaa, Eneli E; Metspalu, Andres A; Gardner, Phyllis P

Publication Date: 2005-08

Variant appearance in text: CFTR: L346P

PubMed Link: 16049310

Variant Present in the following documents:

• Main text

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