Varaico: Literature-Extracted Genetic Variants

Gene:RECQL4
Variant:p.E464Splc
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RECQL4

NM_004260.4:p.E464Splc

Associated Papers

Rare presentation of Rothmund-Thomson syndrome with novel compound heterozygous mutations of the RECQL4 gene.

Zhang X et al.

Anais Brasileiros De Dermatologia, 0

Sporadic form of epidermolysis bullosa simplex with mottled pigmentation.

Ferreira FR et al.

Anais Brasileiros De Dermatologia, 0

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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."