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results found
In certain populations, founder pathogenic variants are a common cause of Lynch syndrome. Here, we report the identification of a novel founder variant, NM_000179.3 (MSH6):c.2061T > G (p.Cys687Trp). O...
Founder variant
Lynch syndrome
variant of uncertain significance
immunohistochemistry
haplotype
endometrial cancer
Transient receptor potential (TRP) channels are key regulators of nasal physiology and airflow perception, yet their longitudinal study is hindered by the invasiveness of conventional biopsies. This s...
Nasal mucosa
Trigeminal nerve
TRPV1
TRPM8
Biopsy
Curettage
Immunohistochemistry
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