Varaico: Literature-Extracted Genetic Variants

Gene:HSD17B4
Variant:p.I584V
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HSD17B4

NM_000414.4:p.I584V

Associated Papers

A mutation of EYA1 gene in a Chinese Han family with Branchio-Oto syndrome.

Han R et al.

Medicine, 2021

Whole exome sequencing in three families segregating a pediatric case of sarcoidosis.

Calender A et al.

Bmc Medical Genomics, 2018

29510755 (PubMed )
Supplement: 12920_2018_338_MOESM6_ESM.xlsx › T2
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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."