Publications:

Polymorphisms in mitochondrial ribosomal protein S5 (MRPS5) are associated with leprosy risk in Chinese.

Plos Neglected Tropical Diseases

Xing, Yan Y; He, Jun J; Wen, Yan Y; Liu, Jian J; You, Yuangang Y; Weng, Xiaoman X; Yuan, Lianchao L; Xiong, Li L; Chen, Xiaohua X; Zhang, Ying Y; Li, Huan-Ying HY

Publication Date: 2020-12

Variant appearance in text: CFTR: F693L

PubMed Link: 33362202

Variant Present in the following documents:

• pntd.0008883.s010.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: CFTR: F693L

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 4

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A novel computational and structural analysis of nsSNPs in CFTR gene.

Genomic Medicine

George Priya Doss, C C; Rajasekaran, R R; Sudandiradoss, C C; Ramanathan, K K; Purohit, R R; Sethumadhavan, R R

Publication Date: 2008-01

Variant appearance in text: CFTR: F693L

PubMed Link: 18716917

Variant Present in the following documents:

• Main text

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Diagnostic testing by CFTR gene mutation analysis in a large group of Hispanics: novel mutations and assessment of a population-specific mutation spectrum.

The Journal Of Molecular Diagnostics : Jmd

Schrijver, Iris I; Ramalingam, Sudha S; Sankaran, Ramalingam R; Swanson, Steve S; Dunlop, Charles L M CL; Keiles, Steven S; Moss, Richard B RB; Oehlert, John J; Gardner, Phyllis P; Wassman, E Robert ER; Kammesheidt, Anja A

Publication Date: 2005-05

Variant appearance in text: CFTR: F693L

PubMed Link: 15858154

Variant Present in the following documents:

• Main text

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Variation in a repeat sequence determines whether a common variant of the cystic fibrosis transmembrane conductance regulator gene is pathogenic or benign.

American Journal Of Human Genetics

Groman, Joshua D JD; Hefferon, Timothy W TW; Casals, Teresa T; Bassas, Lluís L; Estivill, Xavier X; Des Georges, Marie M; Guittard, Caroline C; Koudova, Monika M; Fallin, M Daniele MD; Nemeth, Krisztina K; Fekete, Gyorgy G; Kadasi, Ludovit L; Friedman, Ken K; Schwarz, Martin M; Bombieri, Cristina C; Pignatti, Pier Franco PF; Kanavakis, Emmanuel E; Tzetis, Maria M; Schwartz, Marianne M; Novelli, Giuseppe G; D'Apice, Maria Rosaria MR; Sobczynska-Tomaszewska, Agnieszka A; Bal, Jerzy J; Stuhrmann, Manfred M; Macek, Milan M; Claustres, Mireille M; Cutting, Garry R GR

Publication Date: 2004-01

Variant appearance in text: CFTR: F693L

PubMed Link: 14685937

Variant Present in the following documents:

• Main text

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