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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:EXPH5

Variant:p.H848fs

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EXPH5

NM_015065.3:p.H848fs

hg38:chr11:108512965 GTG>N

Associated Papers

A novel homozygous deletion in EXPH5 causes a skin fragility phenotype.

Malchin N et al.

Clinical and Experimental Dermatology, 2016

27730671 (PubMed )

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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."