Varaico: Literature-Extracted Genetic Variants

Gene:RIPK4
Variant:p.L766V
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RIPK4

NM_020639.3:p.L766V

Associated Papers

Clinical Manifestations of Alport Syndrome-Diffuse Leiomyomatosis Patients With Contiguous Gene Deletions in COL4A6 and COL4A5.

Zhou X et al.

Frontiers in Medicine, 2021

34778325 (PubMed )
Supplement: Data_Sheet_2.PDF

Genetic defect of a combined 17 α-hydroxylase/17,20-lyase deficiency patient with adrenal crisis.

Zhang Y et al.

Gynecological Endocrinology : the Official Journal of the International Society of Gynecological Endocrinology, 2018

Exome Sequencing Identifies LOXL2 Mutation as a Cause of Familial Intracranial Aneurysm.

Wu Y et al.

World Neurosurgery, 2018

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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."