Publications:

Sources of discordance among germ-line variant classifications in ClinVar.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S

Publication Date: 2017-10

Variant appearance in text: CP: 359A>G

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

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Spondyloenchondrodysplasia Due to Mutations in ACP5: A Comprehensive Survey.

Journal Of Clinical Immunology

Briggs, Tracy A TA; Rice, Gillian I GI; Adib, Navid N; Ades, Lesley L; Barete, Stephane S; Baskar, Kannan K; Baudouin, Veronique V; Cebeci, Ayse N AN; Clapuyt, Philippe P; Coman, David D; De Somer, Lien L; Finezilber, Yael Y; Frydman, Moshe M; Guven, Ayla A; Heritier, Sébastien S; Karall, Daniela D; Kulkarni, Muralidhar L ML; Lebon, Pierre P; Levitt, David D; Le Merrer, Martine M; Linglart, Agnes A; Livingston, John H JH; Navarro, Vincent V; Okenfuss, Ericka E; Puel, Anne A; Revencu, Nicole N; Scholl-Bürgi, Sabine S; Vivarelli, Marina M; Wouters, Carine C; Bader-Meunier, Brigitte B; Crow, Yanick J YJ

Publication Date: 2016-04

Variant appearance in text: CP: 359A>G

PubMed Link: 26951490

Variant Present in the following documents:

• 10875_2016_Article_252.pdf

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Variants in pancreatic carboxypeptidase genes CPA2 and CPB1 are not associated with chronic pancreatitis.

American Journal Of Physiology. Gastrointestinal And Liver Physiology

Nakano, Eriko E; Geisz, Andrea A; Masamune, Atsushi A; Niihori, Tetsuya T; Hamada, Shin S; Kume, Kiyoshi K; Kakuta, Yoichi Y; Aoki, Yoko Y; Matsubara, Yoichi Y; Ebert, Karolin K; Ludwig, Maren M; Braun, Markus M; Groneberg, David A DA; Shimosegawa, Tooru T; Sahin-Tóth, Miklós M; Witt, Heiko H

Publication Date: 2015-10-15

Variant appearance in text: CP: 359A>G

PubMed Link: 26316592

Variant Present in the following documents:

• Main text

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