Publications:

Identification and Classification of Rare Variants in NPC1 and NPC2 in Quebec.

Scientific Reports

Touma, Lahoud L; Labrecque, Marjorie M; Tetreault, Martine M; Duquette, Antoine A

Publication Date: 2021-05-14

Variant appearance in text: NPC1: A1187A

PubMed Link: 33990640

Variant Present in the following documents:

• Main text
• 41598_2021_Article_89630.pdf

View BVdb publication page

An uncommon inheritance pattern in Niemann-Pick disease type C: identification of probable paternal germline mosaicism in a Mexican family.

Bmc Neurology

Cervera-Gaviria, Marivi M; Alcántara-Ortigoza, Miguel Angel MA; González-Del Angel, Ariadna A; Moyers-Pérez, Paola P; Legorreta-Ramírez, Blanca Gabriela Lizet BG; Barrera-Carmona, Nancy N; Cervera-Gaviria, Jaime J

Publication Date: 2016-08-22

Variant appearance in text: rs55724504

PubMed Link: 27549128

Variant Present in the following documents:

• Main text
• 12883_2016_Article_649.pdf

View BVdb publication page