Art
J-GLOBAL ID：202002229480140011   Reference number：20A1720693

De novo 2q36.3q37.1 deletion encompassing TRIP12 and NPPC yields distinct phenotypes

TRIP12およびNPPCを含む新規2q36.3q37.1欠失は異なった表現型をもたらす
Author (13)：
KONDO Yuto

About KONDO Yuto

(Nagoya City Univ. Graduate School of Medical Sci., Nagoya, JPN)

About Nagoya City Univ. Graduate School of Medical Sci., Nagoya, JPN

, 
AOYAMA Kohei

About AOYAMA Kohei

(Nagoya City Univ. Graduate School of Medical Sci., Nagoya, JPN)

About Nagoya City Univ. Graduate School of Medical Sci., Nagoya, JPN

, 
SUZUKI Hisato

About SUZUKI Hisato

(Keio Univ. School of Medicine, Tokyo, JPN)

About Keio Univ. School of Medicine, Tokyo, JPN

, 
HATTORI Ayako

About HATTORI Ayako

(Nagoya City Univ. Graduate School of Medical Sci., Nagoya, JPN)

About Nagoya City Univ. Graduate School of Medical Sci., Nagoya, JPN

, 
HORI Ikumi

About HORI Ikumi

(Nagoya City Univ. Graduate School of Medical Sci., Nagoya, JPN)

About Nagoya City Univ. Graduate School of Medical Sci., Nagoya, JPN

, 
ITO Koichi

About ITO Koichi

(Nagoya City Univ. Graduate School of Medical Sci., Nagoya, JPN)

About Nagoya City Univ. Graduate School of Medical Sci., Nagoya, JPN

, 
YOSHIDA Aya

About YOSHIDA Aya

(Nagoya City Univ. Graduate School of Medical Sci., Nagoya, JPN)

About Nagoya City Univ. Graduate School of Medical Sci., Nagoya, JPN

, 
KOROKI Mari

About KOROKI Mari

(Nagoya City Univ. Graduate School of Medical Sci., Nagoya, JPN)

About Nagoya City Univ. Graduate School of Medical Sci., Nagoya, JPN

, 
KOROKI Mari

About KOROKI Mari

(Japanese Red Cross Nagoya Daini Hospital, Nagoya, JPN)

About Japanese Red Cross Nagoya Daini Hospital, Nagoya, JPN

, 
UEDA Kentaro

About UEDA Kentaro

(Nagoya City Univ. Graduate School of Medical Sci., Nagoya, JPN)

About Nagoya City Univ. Graduate School of Medical Sci., Nagoya, JPN

, 
UEDA Kentaro

About UEDA Kentaro

(Japanese Red Cross Nagoya Daini Hospital, Nagoya, JPN)

About Japanese Red Cross Nagoya Daini Hospital, Nagoya, JPN

, 
KOSAKI Kenjiro

About KOSAKI Kenjiro

(Keio Univ. School of Medicine, Tokyo, JPN)

About Keio Univ. School of Medicine, Tokyo, JPN

, 
SAITOH Shinji

About SAITOH Shinji

(Nagoya City Univ. Graduate School of Medical Sci., Nagoya, JPN)

About Nagoya City Univ. Graduate School of Medical Sci., Nagoya, JPN


Material：
Human Genome Variation (Web)

About Human Genome Variation (Web)


Volume： 7  Issue： June  Page： WEB ONLY  Publication year： Jun. 2020 
JST Material Number： U1014A  ISSN： 2054-345X  Document type： Article
Article type： 短報  Country of issue： Germany, Federal Republic of (DEU)  Language： ENGLISH (EN)
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human(primates)

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,...
Semi thesaurus term：
Thesaurus term/Semi thesaurus term
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All keywords is available on JDreamIII(charged).
On J-GLOBAL, this item will be available after more than half a year after the record posted. In addtion, medical articles require to login to MyJ-GLOBAL.
NPPC遺伝子

About NPPC遺伝子

,...
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JST classification (1)：
JST classification
Category name(code) classified by JST.
Congenital diseases,deformities in general. 
(GD03010V)

About Congenital diseases,deformities in general.

Terms in the title (2)：
Terms in the title
Keywords automatically extracted from the title.
欠失

About 欠失

, 
表現型

About 表現型


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