Publications:

Whole genome sequencing reveals epistasis effects within RET for Hirschsprung disease.

Scientific Reports

Wang, Yanbing Y; Mak, Timothy Shin Heng TSH; Dattani, Saloni S; Garcia-Barcelo, Maria-Merce MM; Fu, Alexander Xi AX; Yip, Kevin Y KY; Ngan, Elly Sau-Wai ES; Tam, Paul Kwang-Hang PK; Tang, Clara Sze-Man CS; Sham, Pak Chung PC

Publication Date: 2022-11-28

Variant appearance in text: rs2435359

PubMed Link: 36443333

Variant Present in the following documents:

• Main text
• 41598_2022_Article_24077.pdf

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Identifying candidate Hirschsprung disease-associated RET variants.

American Journal Of Human Genetics

Burzynski, Grzegorz M GM; Nolte, Ilja M IM; Bronda, Agnes A; Bos, Krista K KK; Osinga, Jan J; Plaza Menacho, Ivan I; Twigt, Bas B; Maas, Saskia S; Brooks, Alice S AS; Verheij, Joke B G M JB; Buys, Charles H C M CH; Hofstra, Robert M W RM

Publication Date: 2005-05

Variant appearance in text: rs2435359

PubMed Link: 15759212

Variant Present in the following documents:

• Main text

View BVdb publication page