Varaico: Literature-Extracted Genetic Variants

Gene:HELB
Variant:p.Q523P
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HELB

NM_001370285.1:p.Q523P

Associated Papers

Rare coding variants in DNA damage repair genes associated with timing of natural menopause.

Ward LD et al.

Hgg Advances, 2022

35493704 (PubMed )
Supplement: mmc1.pdf

MCM8 and MCM9 Nucleotide Variants in Women With Primary Ovarian Insufficiency.

Desai S et al.

The Journal of Clinical Endocrinology and Metabolism, 2017

A G613A missense in the Hutchinson's progeria lamin A/C gene causes a lone, autosomal dominant atrioventricular block.

Villa F et al.

Immunity & Ageing : I & A, 2014

25469153 (PubMed )
Supplement: 12979_2014_19_MOESM2_ESM.xls › Sheet1
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