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: rs1964052

PubMed Link: 36075891

Variant Present in the following documents:

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

View BVdb publication page

---

Association of a Common NOS1AP Variant with Attenuation of QTc Prolongation in Men with Heroin Dependence Undergoing Methadone Treatment.

Journal Of Personalized Medicine

Chang, Kuan-Cheng KC; Chen, Ke-Wei KW; Huang, Chieh-Liang CL; Liao, Wen-Ling WL; Wu, Mei-Yao MY; Lin, Yu-Kai YK; Shiao, Yi-Tzone YT; Chung, Wei-Hsin WH; Lin, Yen-Nien YN; Lane, Hsien-Yuan HY

Publication Date: 2022-05-20

Variant appearance in text: rs1964052

PubMed Link: 35629257

Variant Present in the following documents:

• Main text
• jpm-12-00835.pdf

View BVdb publication page

---

Case Report: A Variant Non-ketotic Hyperglycinemia With GLRX5 Mutations: Manifestation of Deficiency of Activities of the Respiratory Chain Enzymes.

Frontiers In Genetics

Feng, Wei-Xing WX; Zhuo, Xiu-Wei XW; Liu, Zhi-Mei ZM; Li, Jiu-Wei JW; Zhang, Wei-Hua WH; Wu, Yun Y; Han, Tong-Li TL; Fang, Fang F

Publication Date: 2021

Variant appearance in text: NOS1AP: 1105+65T>C; rs1964052

PubMed Link: 34054912

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

---

Genetic Factors of Nitric Oxide's System in Psychoneurologic Disorders.

International Journal Of Molecular Sciences

Nasyrova, Regina F RF; Moskaleva, Polina V PV; Vaiman, Elena E EE; Shnayder, Natalya A NA; Blatt, Nataliya L NL; Rizvanov, Albert A AA

Publication Date: 2020-02-26

Variant appearance in text: rs1964052

PubMed Link: 32111088

Variant Present in the following documents:

• Main text
• ijms-21-01604.pdf

View BVdb publication page

---

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: rs1964052

PubMed Link: 30319441

Variant Present in the following documents:

• Table_6.xlsx, sheet 1
• Table_5.xlsx, sheet 1
• Table_7.xlsx, sheet 1

View BVdb publication page

---

Whole-exome sequencing analysis of Waardenburg syndrome in a Chinese family.

Human Genome Variation

Chen, Dezhong D; Zhao, Na N; Wang, Jing J; Li, Zhuoyu Z; Wu, Changxin C; Fu, Jie J; Xiao, Han H

Publication Date: 2017

Variant appearance in text: rs1964052

PubMed Link: 28690861

Variant Present in the following documents:

• hgv201727-s1.xls, sheet 1

View BVdb publication page

---

Generation of a High Number of Healthy Erythroid Cells from Gene-Edited Pyruvate Kinase Deficiency Patient-Specific Induced Pluripotent Stem Cells.

Stem Cell Reports

Garate, Zita Z; Quintana-Bustamante, Oscar O; Crane, Ana M AM; Olivier, Emmanuel E; Poirot, Laurent L; Galetto, Roman R; Kosinski, Penelope P; Hill, Collin C; Kung, Charles C; Agirre, Xabi X; Orman, Israel I; Cerrato, Laura L; Alberquilla, Omaira O; Rodriguez-Fornes, Fatima F; Fusaki, Noemi N; Garcia-Sanchez, Felix F; Maia, Tabita M TM; Ribeiro, Maria L ML; Sevilla, Julian J; Prosper, Felipe F; Jin, Shengfang S; Mountford, Joanne J; Guenechea, Guillermo G; Gouble, Agnes A; Bueren, Juan A JA; Davis, Brian R BR; Segovia, Jose C JC

Publication Date: 2015-12-08

Variant appearance in text: rs1964052

PubMed Link: 26549847

Variant Present in the following documents:

• mmc3.xlsx, sheet 3
• mmc3.xlsx, sheet 2
• mmc3.xlsx, sheet 1

View BVdb publication page

---

Mutation screening of NOS1AP gene in a large sample of psychiatric patients and controls.

Bmc Medical Genetics

Delorme, Richard R; Betancur, Catalina C; Scheid, Isabelle I; Anckarsäter, Henrik H; Chaste, Pauline P; Jamain, Stéphane S; Schuroff, Franck F; Nygren, Gudrun G; Herbrecht, Evelyn E; Dumaine, Anne A; Mouren, Marie Christine MC; Råstam, Maria M; Leboyer, Marion M; Gillberg, Christopher C; Bourgeron, Thomas T

Publication Date: 2010-07-05

Variant appearance in text: rs1964052

PubMed Link: 20602773

Variant Present in the following documents:

• Main text
• 1471-2350-11-108.pdf

View BVdb publication page

---