Varaico: Literature-Extracted Genetic Variants

Gene:KRT1
Variant:p.S626T
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KRT1

NM_006121.4:p.S626T

Associated Papers

A case report of neonatal incontinentia pigmenti complicated by severe cerebrovascular lesions in one of the male monozygotic twins.

Lin X et al.

Frontiers in Pediatrics, 2024

38832002 (PubMed )
Supplement: Table1.xlsx › filter_variants

A Gly684Ala substitution in the androgen receptor is the cause for azoospermia in a Chinese family with mild androgen insensitivity syndrome and normal hormone levels.

Yuan Y et al.

Frontiers in Genetics, 2022

36159980 (PubMed )
Supplement: Table1.XLSX › SNP

Identification of sequence variants in genetic disease-causing genes using targeted next-generation sequencing.

Wei X et al.

Plos One, 2011

22216297 (PubMed )
Supplement: pone.0029500.s005.xlsx › Sheet1
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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."