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: rs12401728

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

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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: IGSF8: 1726+113G>A; rs12401728

PubMed Link: 30319441

Variant Present in the following documents:

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

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Genetic analysis of candidate SNPs for metabolic syndrome in obstructive sleep apnea (OSA).

Gene

Grilo, Antonio A; Ruiz-Granados, Elena S ES; Moreno-Rey, Concha C; Rivera, Jose M JM; Ruiz, Agustin A; Real, Luis M LM; Sáez, Maria E ME

Publication Date: 2013-05-25

Variant appearance in text: rs12401728

PubMed Link: 23524009

Variant Present in the following documents:

• Main text

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Gender-stratified gene and gene-treatment interactions in smoking cessation.

The Pharmacogenomics Journal

Lee, W W; Bergen, A W AW; Swan, G E GE; Li, D D; Liu, J J; Thomas, P P; Tyndale, R F RF; Benowitz, N L NL; Lerman, C C; Conti, D V DV

Publication Date: 2012-12

Variant appearance in text: rs12401728

PubMed Link: 21808284

Variant Present in the following documents:

• NIHMS305090-supplement-3.pdf

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