Publications:

Allelic prevalence and geographic distribution of cerebrotendinous xanthomatosis.

Orphanet Journal Of Rare Diseases

Pramparo, Tiziano T; Steiner, Robert D RD; Rodems, Steve S; Jenkinson, Celia C

Publication Date: 2023-01-17

Variant appearance in text: CYP27A1: 1494G>C; Lys498Asn; rs377290147

PubMed Link: 36650582

Variant Present in the following documents:

• 13023_2022_2578_MOESM1_ESM.xlsx, sheet 1

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A stop-gain mutation in GXYLT1 promotes metastasis of colorectal cancer via the MAPK pathway.

Cell Death & Disease

Peng, Lin L; Zhao, Min M; Liu, Tianqi T; Chen, Jiangbo J; Gao, Pin P; Chen, Lei L; Xing, Pu P; Wang, Zaozao Z; Di, Jiabo J; Xu, Qiang Q; Qu, Hong H; Jiang, Beihai B; Su, Xiangqian X

Publication Date: 2022-04-22

Variant appearance in text: CYP27A1: K498N

PubMed Link: 35459861

Variant Present in the following documents:

• 41419_2022_4844_MOESM4_ESM.xlsx, sheet 3

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FH ALERT: efficacy of a novel approach to identify patients with familial hypercholesterolemia.

Scientific Reports

Fath, Felix F; Bengeser, Andreas A; Barresi, Mathias M; Binner, Priska P; Schwab, Stefanie S; Ray, Kausik K KK; Krämer, Bernhard K BK; Fraass, Uwe U; März, Winfried W

Publication Date: 2021-10-14

Variant appearance in text: CYP27A1: 1494G>C

PubMed Link: 34650182

Variant Present in the following documents:

• Main text
• 41598_2021_Article_99961.pdf

View BVdb publication page