Varaico: Literature-Extracted Genetic Variants

Gene:HPS4
Variant:p.H546R
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HPS4

NM_022081.6:p.H546R

Associated Papers

Pulmonary fibrosis in non-mutation carriers of families with short telomere syndrome gene mutations.

van der Vis JJ et al.

Respirology (carlton, Vic.), 2021

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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."