Varaico: Literature-Extracted Genetic Variants

Gene:SERAC1
Variant:p.T147fs
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SERAC1

NM_032861.4:p.T147fs

Associated Papers

Genetic etiology of hereditary hearing loss in the Gulf Cooperation Council countries.

Al Mutery A et al.

Human Genetics, 2022

What is the right sequencing approach? Solo VS extended family analysis in consanguineous populations.

Alfares A et al.

Bmc Medical Genomics, 2020

32680510 (PubMed )
Supplement: 12920_2020_743_MOESM3_ESM.xlsx › Sheet1

Progressive deafness-dystonia due to SERAC1 mutations: A study of 67 cases.

Maas RR et al.

Annals of Neurology, 2017

Thirteen year retrospective review of the spectrum of inborn errors of metabolism presenting in a tertiary center in Saudi Arabia.

Alfadhel M et al.

Orphanet Journal of Rare Diseases, 2016

The Expanding MEGDEL Phenotype: Optic Nerve Atrophy, Microcephaly, and Myoclonic Epilepsy in a Child with SERAC1 Mutations.

Lumish HS et al.

Jimd Reports, 2014

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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."