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: rs12729701

PubMed Link: 36075891

Variant Present in the following documents:

• 41439_2022_208_MOESM4_ESM.xlsx, sheet 2

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Effects of AQP4 and KCNJ10 Gene Polymorphisms on Drug Resistance and Seizure Susceptibility in Chinese Han Patients with Focal Epilepsy.

Neuropsychiatric Disease And Treatment

Zhu, Haoyue H; Zhang, Mengqi M; Fu, Yujiao Y; Long, Hongyu H; Xiao, Wenbiao W; Feng, Li L; Xiao, Bo B; Zhou, Luo L

Publication Date: 2020

Variant appearance in text: rs12729701

PubMed Link: 32021205

Variant Present in the following documents:

• Main text
• ndt-16-119.pdf

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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: KCNJ10: 1-84T>C; rs12729701

PubMed Link: 30319441

Variant Present in the following documents:

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

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Common variants of KCNJ10 are associated with susceptibility and anti-epileptic drug resistance in Chinese genetic generalized epilepsies.

Plos One

Guo, Yong Y; Yan, Kui Po KP; Qu, Qiang Q; Qu, Jian J; Chen, Zi Gui ZG; Song, Tao T; Luo, Xiang-Ying XY; Sun, Zhong-Yi ZY; Bi, Chang-Long CL; Liu, Jin-Fang JF

Publication Date: 2015

Variant appearance in text: rs12729701

PubMed Link: 25874548

Variant Present in the following documents:

• Main text
• pone.0124896.pdf

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Genome-wide association analysis implicates elastic microfibrils in the development of nonsyndromic striae distensae.

The Journal Of Investigative Dermatology

Tung, Joyce Y JY; Kiefer, Amy K AK; Mullins, Meghan M; Francke, Uta U; Eriksson, Nicholas N

Publication Date: 2013-11

Variant appearance in text: rs12729701

PubMed Link: 23633020

Variant Present in the following documents:

• jid2013196x1.pdf

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