Varaico: Literature-Extracted Genetic Variants

Gene:HHAT
Variant:p.M1L
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HHAT

NM_018194.6:p.M1L

Associated Papers

Novel variant in HHAT as a cause of different sex development with partial gonadal dysgenesis associated with microcephaly, eye defects, and distal phalangeal hypoplasia of both thumbs: Case report.

Baz-Redón N et al.

Frontiers in Endocrinology, 2022

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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."