Publications:

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A genomic deletion encompassing CRYBB2-CRYBB2P1 is responsible for autosomal recessive congenital cataracts.

Human Genome Variation

Irum, Bushra B; Kabir, Firoz F; Shoshany, Nadav N; Khan, Shahid Y SY; Rauf, Bushra B; Naeem, Muhammad Asif MA; Qaiser, Tanveer A TA; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA

Publication Date: 2022-09-08

Variant appearance in text: rs1466113

PubMed Link: 36075891

Variant Present in the following documents:

• 41439_2022_208_MOESM4_ESM.xlsx, sheet 2
• 41439_2022_208_MOESM5_ESM.xlsx, sheet 2
• 41439_2022_208_MOESM3_ESM.xlsx, sheet 2

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Role of Somatostatin in the Regulation of Central and Peripheral Factors of Satiety and Obesity.

International Journal Of Molecular Sciences

Kumar, Ujendra U; Singh, Sneha S

Publication Date: 2020-04-07

Variant appearance in text: rs1466113

PubMed Link: 32272767

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genetic Evidence Supporting the Role of the Calcium Channel, CACNA1S, in Tooth Cusp and Root Patterning.

Frontiers In Physiology

Laugel-Haushalter, Virginie V; Morkmued, Supawich S; Stoetzel, Corinne C; Geoffroy, Véronique V; Muller, Jean J; Boland, Anne A; Deleuze, Jean-François JF; Chennen, Kirsley K; Pitiphat, Waranuch W; Dollfus, Hélène H; Niederreither, Karen K; Bloch-Zupan, Agnès A; Pungchanchaikul, Patimaporn P

Publication Date: 2018

Variant appearance in text: SSTR2: -92-49C>G; rs1466113

PubMed Link: 30319441

Variant Present in the following documents:

• Table_5.xlsx, sheet 1

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Gene-Dairy Food Interactions and Health Outcomes: A Review of Nutrigenetic Studies.

Nutrients

Comerford, Kevin B KB; Pasin, Gonca G

Publication Date: 2017-07-06

Variant appearance in text: rs1466113

PubMed Link: 28684688

Variant Present in the following documents:

• Main text
• nutrients-09-00710.pdf

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Variants in motilin, somatostatin and their receptor genes and risk of biliary tract cancers and stones in Shanghai, China.

Meta Gene

Xu, Hong-Li HL; Hsing, Ann W AW; Koshiol, Jill J; Chu, Lisa W LW; Cheng, Jia-Rong JR; Gao, Jing J; Tan, Yu-Ting YT; Wang, Bing-Sheng BS; Shen, Ming-Chang MC; Gao, Yu-Tang YT

Publication Date: 2014-12-01

Variant appearance in text: rs1466113

PubMed Link: 24999450

Variant Present in the following documents:

• Main text
• main.pdf

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Genome-wide association to body mass index and waist circumference: the Framingham Heart Study 100K project.

Bmc Medical Genetics

Fox, Caroline S CS; Heard-Costa, Nancy N; Cupples, L Adrienne LA; Dupuis, Josée J; Vasan, Ramachandran S RS; Atwood, Larry D LD

Publication Date: 2007-09-19

Variant appearance in text: rs1466113

PubMed Link: 17903300

Variant Present in the following documents:

• Main text
• 1471-2350-8-S1-S18.pdf

View BVdb publication page

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