Varaico: Literature-Extracted Genetic Variants

Gene:HSD17B4
Variant:p.R106P
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HSD17B4

NM_000414.4:p.R106P

Associated Papers

Prelingual Sensorineural Hearing Loss Caused by a Novel GJB2 Dominant Mutation in a Chinese Family.

Huang S et al.

Biomed Research International, 2020

32090102 (PubMed )
Supplement: 6370386.f1.xlsx › Supplemental_table_2

The population genetics of human disease: The case of recessive, lethal mutations.

Amorim CEG et al.

Plos Genetics, 2017

28957316 (PubMed )
Supplement: pgen.1006915.s002.xlsx › Table_S2

Assessment of computational methods for predicting the effects of missense mutations in human cancers.

Gnad F et al.

Bmc Genomics, 2013

23819521 (PubMed )
Supplement: 1471-2164-14-S3-S7-S1.xlsx › dbSNP

D-bifunctional protein deficiency with fetal ascites, polyhydramnios, and contractures of hands and toes.

Nakano K et al.

The Journal of Pediatrics, 2001

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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."