Publications:

Mutation analysis of the WFS1 gene in a Chinese family with autosomal-dominant non-syndrome deafness.

Scientific Reports

Zhao, Jing J; Zhang, Siqi S; Jiang, Yuan Y; Liu, Yan Y; Wang, Jiantao J; Zhu, QingWen Q

Publication Date: 2022-12-23

Variant appearance in text: rs4308887

PubMed Link: 36564540

Variant Present in the following documents:

• 41598_2022_26850_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

Establishment and characterization of a new mantle cell lymphoma cell line with a NOTCH2 mutation, Arbo.

Ejhaem

Safa, Firas F; Rasmussen, Terri T; Lobelle-Rich, Patricia P; Collier, Stephanie S; Milligan, Nicholas N; Schmeig, John J; Schmid, Janet J; Wiewiorowski, Carol C; Totaro, Denise D; Brown, Theresa C TC; Satyavarapu, Ishwarya I; Badoo, Melody M; Ungerleider, Nathan N; Flemington, Erik K EK; Safah, Hana H; Saba, Nakhle S NS

Publication Date: 2022-11

Variant appearance in text: rs4308887

PubMed Link: 36467812

Variant Present in the following documents:

• JHA2-3-1326-s001.xlsx, sheet 1

View BVdb publication page

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: rs4308887

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

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: COL4A5: 1587+136A>G; rs4308887

PubMed Link: 30319441

Variant Present in the following documents:

• Table_7.xlsx, sheet 1

View BVdb publication page

SOP3v2: web-based selection of oligonucleotide primer trios for genotyping of human and mouse polymorphisms.

Nucleic Acids Research

Ringquist, Steven S; Pecoraro, Christopher C; Gilchrist, Crystal M S CM; Styche, Alexis A; Rudert, William A WA; Benos, Panagiotis V PV; Trucco, Massimo M

Publication Date: 2005-07-01

Variant appearance in text: rs4308887

PubMed Link: 15980532

Variant Present in the following documents:

• Main text
• gki483.pdf

View BVdb publication page