Publications:

Biochemical and genetic characteristics of patients with primary carnitine deficiency identified through newborn screening.

Orphanet Journal Of Rare Diseases

Lin, Yiming Y; Lin, Bangbang B; Chen, Yanru Y; Zheng, Zhenzhu Z; Fu, Qingliu Q; Lin, Weihua W; Zhang, Weifeng W

Publication Date: 2021-12-04

Variant appearance in text: PC: 1196G>A

PubMed Link: 34863234

Variant Present in the following documents:

• 13023_2021_Article_2126.pdf

View BVdb publication page

Biochemical and genetic characteristics of patients with primary carnitine deficiency identified through newborn screening.

Orphanet Journal Of Rare Diseases

Lin, Yiming Y; Lin, Bangbang B; Chen, Yanru Y; Zheng, Zhenzhu Z; Fu, Qingliu Q; Lin, Weihua W; Zhang, Weifeng W

Publication Date: 2021-12-04

Variant appearance in text: PC: 1196G>A

PubMed Link: 34863234

Variant Present in the following documents:

• 13023_2021_Article_2126.pdf

View BVdb publication page

PALLD mutation in a European family conveys a stromal predisposition for familial pancreatic cancer.

Jci Insight

Liotta, Lucia L; Lange, Sebastian S; Maurer, H Carlo HC; Olive, Kenneth P KP; Braren, Rickmer R; Pfarr, Nicole N; Burger, Sebastian S; Muckenhuber, Alexander A; Jesinghaus, Moritz M; Steiger, Katja K; Weichert, Wilko W; Friess, Helmut H; Schmid, Roland R; Algül, Hana H; Jost, Philipp J PJ; Ramser, Juliane J; Fischer, Christine C; Quante, Anne S AS; Reichert, Maximilian M; Quante, Michael M

Publication Date: 2021-03-25

Variant appearance in text: PC: 1196G>A; S399N

PubMed Link: 33764904

Variant Present in the following documents:

• jciinsight-6-141532.pdf

View BVdb publication page