Publications:

Screening for Tay-Sachs disease carriers by full-exon sequencing with novel variant interpretation outperforms enzyme testing in a pan-ethnic cohort.

Molecular Genetics & Genomic Medicine

Cecchi, Alana C AC; Vengoechea, Elizabeth S ES; Kaseniit, Kristjan E KE; Hardy, Melanie W MW; Kiger, Laura A LA; Mehta, Nikita N; Haque, Imran S IS; Moyer, Krista K; Page, Patricia Z PZ; Muzzey, Dale D; Grinzaid, Karen A KA

Publication Date: 2019-08

Variant appearance in text: HEXA: 1421+4A>G

PubMed Link: 31293106

Variant Present in the following documents:

• MGG3-7-e836-s002.xlsx, sheet 5

View BVdb publication page