HEXA c.1146+352T>G

Variant ID: 15-72639675-A-C

NM_000520.4(HEXA):c.1146+352T>G

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Identification of novel mutations in HEXA gene in children affected with Tay Sachs disease from India.

Plos One
Mistri, Mehul M; Tamhankar, Parag M PM; Sheth, Frenny F; Sanghavi, Daksha D; Kondurkar, Pratima P; Patil, Swapnil S; Idicula-Thomas, Susan S; Gupta, Sarita S; Sheth, Jayesh J
Publication Date: 2012

Variant appearance in text: rs191809305
PubMed Link: 22723944
Variant Present in the following documents:
  • Main text
  • pone.0039122.pdf
View BVdb publication page