Publications:

The prevalence, genetic complexity and population-specific founder effects of human autosomal recessive disorders.

Npj Genomic Medicine

Xiao, Qingyang Q; Lauschke, Volker M VM

Publication Date: 2021-06-02

Variant appearance in text: ADSL: 616G>A; Ala206Thr; rs148411623

PubMed Link: 34078906

Variant Present in the following documents:

• 41525_2021_203_MOESM2_ESM.xlsx, sheet 1

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Targeted next-generation sequencing identifies novel variants in candidate genes for Parkinson's disease in Black South African and Nigerian patients.

Bmc Medical Genetics

Oluwole, Oluwafemi G OG; Kuivaniemi, Helena H; Abrahams, Shameemah S; Haylett, William L WL; Vorster, Alvera A AA; van Heerden, Carel J CJ; Kenyon, Colin P CP; Tabb, David L DL; Fawale, Michael B MB; Sunmonu, Taofiki A TA; Ajose, Abiodun A; Olaogun, Matthew O MO; Rossouw, Anastasia C AC; van Hillegondsberg, Ludo S LS; Carr, Jonathan J; Ross, Owen A OA; Komolafe, Morenikeji A MA; Tromp, Gerard G; Bardien, Soraya S

Publication Date: 2020-02-04

Variant appearance in text: rs148411623

PubMed Link: 32019516

Variant Present in the following documents:

• Main text
• 12881_2020_Article_953.pdf

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Genome-wide testing of putative functional exonic variants in relationship with breast and prostate cancer risk in a multiethnic population.

Plos Genetics

Haiman, Christopher A CA; Han, Ying Y; Feng, Ye Y; Xia, Lucy L; Hsu, Chris C; Sheng, Xin X; Pooler, Loreall C LC; Patel, Yesha Y; Kolonel, Laurence N LN; Carter, Erin E; Park, Karen K; Le Marchand, Loic L; Van Den Berg, David D; Henderson, Brian E BE; Stram, Daniel O DO

Publication Date: 2013-03

Variant appearance in text: rs148411623

PubMed Link: 23555315

Variant Present in the following documents:

• pgen.1003419.s009.xlsx, sheet 1

View BVdb publication page