Publications:

Membrane transport proteins in melanosomes: Regulation of ions for pigmentation.

Biochimica Et Biophysica Acta. Biomembranes

Wiriyasermkul, Pattama P; Moriyama, Satomi S; Nagamori, Shushi S

Publication Date: 2020-12-01

Variant appearance in text: SLC24A5: S182R

PubMed Link: 32333855

Variant Present in the following documents:

• Main text
• main.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: SLC24A5: 546T>A; Ser182Arg; rs1057517995

PubMed Link: 31589614

Variant Present in the following documents:

• pgen.1008409.s001.xlsx, sheet 1

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A Functional Study of Mutations in K+-dependent Na+-Ca2+ Exchangers Associated with Amelogenesis Imperfecta and Non-syndromic Oculocutaneous Albinism.

The Journal Of Biological Chemistry

Jalloul, Ali H AH; Rogasevskaia, Tatiana P TP; Szerencsei, Robert T RT; Schnetkamp, Paul P M PP

Publication Date: 2016-06-17

Variant appearance in text: OCA6: 546T>A

PubMed Link: 27129268

Variant Present in the following documents:

• Main text

View BVdb publication page