Publications:

Evident hypopigmentation without other ocular deficits in Dutch patients with oculocutaneous albinism type 4.

Scientific Reports

Kruijt, C C CC; Schalij-Delfos, N E NE; de Wit, G C GC; Florijn, R J RJ; van Genderen, M M MM

Publication Date: 2021-06-02

Variant appearance in text: SLC45A2: 264del

PubMed Link: 34078970

Variant Present in the following documents:

• Main text
• 41598_2021_Article_90896.pdf

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Non-syndromic Oculocutaneous Albinism: Novel Genetic Variants and Clinical Follow Up of a Brazilian Pediatric Cohort.

Frontiers In Genetics

Schidlowski, Laire L; Liebert, Fernando F; Iankilevich, Pérola Grupenmacher PG; Rebellato, Priscila Regina Orso PRO; Rocha, Rafaela Andrade RA; Almeida, Nadia Aparecida Pereira NAP; Jain, Aayushee A; Wu, Yiming Y; Itan, Yuval Y; Rosati, Roberto R; Prando, Carolina C

Publication Date: 2020

Variant appearance in text: SLC45A2: 264delC

PubMed Link: 32411182

Variant Present in the following documents:

• Main text
• fgene-11-00397.pdf

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Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.

Plos Genetics

Capalbo, Antonio A; Valero, Roberto Alonso RA; Jimenez-Almazan, Jorge J; Pardo, Pere Mir PM; Fabiani, Marco M; Jiménez, David D; Simon, Carlos C; Rodriguez, Julio Martin JM

Publication Date: 2019-10

Variant appearance in text: SLC45A2: 264delC; Gly89fs; rs775387808

PubMed Link: 31589614

Variant Present in the following documents:

• pgen.1008409.s001.xlsx, sheet 1

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Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.

American Journal Of Human Genetics

Wright, Caroline F CF; West, Ben B; Tuke, Marcus M; Jones, Samuel E SE; Patel, Kashyap K; Laver, Thomas W TW; Beaumont, Robin N RN; Tyrrell, Jessica J; Wood, Andrew R AR; Frayling, Timothy M TM; Hattersley, Andrew T AT; Weedon, Michael N MN

Publication Date: 2019-02-07

Variant appearance in text: SLC45A2: 264delC

PubMed Link: 30665703

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

View BVdb publication page