Varaico: Literature-Extracted Genetic Variants

Gene:MUC5B
Variant:p.S646_N647Splc
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MUC5B

NM_002458.3:p.S646_N647Splc

Associated Papers

Hereditary Mucin Deficiency Caused by Biallelic Loss of Function of MUC5B.

Costain G et al.

American Journal of Respiratory and Critical Care Medicine, 2022

Exome sequencing links mutations in PARN and RTEL1 with familial pulmonary fibrosis and telomere shortening.

Stuart BD et al.

Nature Genetics, 2015

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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."