Publications:

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iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.

Scientific Reports

Wang, Meng M; Wei, Liping L

Publication Date: 2016-08-16

Variant appearance in text: CTRC: E225A

PubMed Link: 27527004

Variant Present in the following documents:

• srep31321-s4.xls, sheet 1

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Extensive molecular analysis suggested the strong genetic heterogeneity of idiopathic chronic pancreatitis.

Molecular Medicine (Cambridge, Mass.)

Sofia, Valentina Maria VM; Da Sacco, Letizia L; Surace, Cecilia C; Tomaiuolo, Anna Cristina AC; Genovese, Silvia S; Grotta, Simona S; Gnazzo, Maria M; Ciocca, Laura L; Petrocchi, Stefano S; Alghisi, Federico F; Montemitro, Enza E; Martemucci, Luigi L; Elce, Ausilia A; Lucidi, Vincenzina V; Castaldo, Giuseppe G; Angioni, Adriano A

Publication Date: 2016-09

Variant appearance in text: CTRC: 674A>C; Glu225Ala

PubMed Link: 27264265

Variant Present in the following documents:

• Main text

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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: CTRC: E225A

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 5

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Genetic mutations in SPINK1, CFTR, CTRC genes in acute pancreatitis.

Bmc Gastroenterology

Koziel, Dorota D; Gluszek, Stanislaw S; Kowalik, Artur A; Chlopek, Malgorzata M; Pieciak, Liliana L

Publication Date: 2015-06-23

Variant appearance in text: CTRC: E225A

PubMed Link: 26100556

Variant Present in the following documents:

• Main text
• 12876_2015_Article_302.pdf

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Comprehensive functional analysis of chymotrypsin C (CTRC) variants reveals distinct loss-of-function mechanisms associated with pancreatitis risk.

Gut

Beer, Sebastian S; Zhou, Jiayi J; Szabó, András A; Keiles, Steven S; Chandak, Giriraj Ratan GR; Witt, Heiko H; Sahin-Tóth, Miklós M

Publication Date: 2013-11

Variant appearance in text: CTRC: 674A>C; E225A

PubMed Link: 22942235

Variant Present in the following documents:

• Main text

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Chymotrypsin C mutations in chronic pancreatitis.

Journal Of Gastroenterology And Hepatology

Zhou, Jiayi J; Sahin-Tóth, Miklós M

Publication Date: 2011-08

Variant appearance in text: CTRC: 674A>C; E225A

PubMed Link: 21631589

Variant Present in the following documents:

• Main text

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Chymotrypsin C (CTRC) variants that diminish activity or secretion are associated with chronic pancreatitis.

Nature Genetics

Rosendahl, Jonas J; Witt, Heiko H; Szmola, Richárd R; Bhatia, Eesh E; Ozsvári, Béla B; Landt, Olfert O; Schulz, Hans-Ulrich HU; Gress, Thomas M TM; Pfützer, Roland R; Löhr, Matthias M; Kovacs, Peter P; Blüher, Matthias M; Stumvoll, Michael M; Choudhuri, Gourdas G; Hegyi, Péter P; te Morsche, René H M RH; Drenth, Joost P H JP; Truninger, Kaspar K; Macek, Milan M; Puhl, Gero G; Witt, Ulrike U; Schmidt, Hartmut H; Büning, Carsten C; Ockenga, Johann J; Kage, Andreas A; Groneberg, David Alexander DA; Nickel, Renate R; Berg, Thomas T; Wiedenmann, Bertram B; Bödeker, Hans H; Keim, Volker V; Mössner, Joachim J; Teich, Niels N; Sahin-Tóth, Miklós M

Publication Date: 2008-01

Variant appearance in text: CTRC: 674A>C; E225A

PubMed Link: 18059268

Variant Present in the following documents:

• Main text

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