Publications:

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: rs111846092

PubMed Link: 36075891

Variant Present in the following documents:

• 41439_2022_208_MOESM4_ESM.xlsx, sheet 2

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A Bitter Taste in Your Heart.

Frontiers In Physiology

Bloxham, Conor J CJ; Foster, Simon R SR; Thomas, Walter G WG

Publication Date: 2020

Variant appearance in text: TAS2R43: F290S; rs111846092

PubMed Link: 32457649

Variant Present in the following documents:

• Main text
• fphys-11-00431.pdf

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Synthetic modeling reveals HOXB genes are critical for the initiation and maintenance of human leukemia.

Nature Communications

Kusakabe, Manabu M; Sun, Ann Chong AC; Tyshchenko, Kateryna K; Wong, Rachel R; Nanda, Aastha A; Shanna, Claire C; Gusscott, Samuel S; Chavez, Elizabeth A EA; Lorzadeh, Alireza A; Zhu, Alice A; Hill, Ainsleigh A; Hung, Stacy S; Brown, Scott S; Babaian, Artem A; Wang, Xuehai X; Holt, Robert A RA; Steidl, Christian C; Karsan, Aly A; Humphries, R Keith RK; Eaves, Connie J CJ; Hirst, Martin M; Weng, Andrew P AP

Publication Date: 2019-07-02

Variant appearance in text: TAS2R43: 869T>C; Phe290Ser; rs111846092

PubMed Link: 31266935

Variant Present in the following documents:

• 41467_2019_10510_MOESM8_ESM.xlsx, sheet 3
• 41467_2019_10510_MOESM8_ESM.xlsx, sheet 1

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Identification of Prognostic and Susceptibility Markers in Chronic Myeloid Leukemia Using Next Generation Sequencing.

Ethiopian Journal Of Health Sciences

Shokeen, Yogender Y; Sharma, Neeta Raj NR; Vats, Abhishek A; Taneja, Vibha V; Minhas, Sachin S; Jauhri, Mayank M; Sankaran, Satish S; Aggarwal, Shyam S

Publication Date: 2018-03

Variant appearance in text: rs111846092

PubMed Link: 29983511

Variant Present in the following documents:

• Main text
• EJHS2802-0135.pdf

View BVdb publication page