Varaico: Literature-Extracted Genetic Variants

Gene:SLC30A9
Variant:p.A350del1
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SLC30A9

NM_006345.4:p.A350del1

Associated Papers

Case report: Birk-Landau-Perez syndrome linked to the SLC30A9 gene-identification of additional cases and expansion of the phenotypic spectrum.

Kizhakkedath P et al.

Frontiers in Genetics, 2023

Impact of Zinc Transport Mechanisms on Embryonic and Brain Development.

Willekens J et al.

Nutrients, 2022

The Israeli national population program of genetic carrier screening for reproductive purposes. How should it be continued?

Zlotogora J

Israel Journal of Health Policy Research, 2019

31839005 (PubMed )
Supplement: 13584_2019_345_MOESM1_ESM.xlsx › Negev_Bedouins

Genetic Disorders Associated with Metal Metabolism.

Umair M et al.

Cells, 2019

SLC30A9 mutation affecting intracellular zinc homeostasis causes a novel cerebro-renal syndrome.

Perez Y et al.

Brain : a Journal of Neurology, 2017

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."