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Genetics
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Genetics
Custom pyrosequencing assay to detect short
BRAF
deletions in Langerhans cell histiocytic lesions
Fanélie
Jouenne
,
Aurélie
Sadoux
,
Gwenaël
Lorillon
,
Baptiste
Louveau
,
Emmanuelle
Bugnet
,
Veronique
Meignin
,
Samia
Mourah
,
Abdellatif
Tazi
Journal of Clinical Pathology
Aug 2021,
74
(8)
533-536;
DOI:
10.1136/jclinpath-2020-206974
Bayesian approach to interpreting somatic cancer sequencing data: a case in point
Ju-Yoon
Yoon
,
Jason N
Rosenbaum
,
Norge
Vergara
,
Roger B
Cohen
,
Robert B
Wilson
Journal of Clinical Pathology
Jun 2021,
74
(6)
403-404;
DOI:
10.1136/jclinpath-2020-206895
Genetic variations in the human severe acute respiratory syndrome coronavirus receptor
ACE2
and serine protease
TMPRSS2
Kohei
Fujikura
,
Kazuma
Uesaka
Journal of Clinical Pathology
May 2021,
74
(5)
307-313;
DOI:
10.1136/jclinpath-2020-206867
Is
FURIN
gene expression in salivary glands related to SARS-CoV-2 infectivity through saliva?
Luisa
Zupin
,
Lorella
Pascolo
,
Sergio
Crovella
Journal of Clinical Pathology
Apr 2021,
74
(4)
209-211;
DOI:
10.1136/jclinpath-2020-206788
Gene of the month:
TLE 1
Karen
Pinto
,
Runjan
Chetty
Journal of Clinical Pathology
Mar 2021,
74
(3)
137-140;
DOI:
10.1136/jclinpath-2020-207174
Novel frameshift variant (c.409dupG) in
SLC25A38
is a common cause of congenital sideroblastic anaemia in the Indian subcontinent
Niveditha
Ravindra
,
Rekha
Athiyarath
,
Eswari
S
,
Sumithra
S
,
Uday
Kulkarni
,
Fouzia
N A
,
Anu
Korula
,
Ramachandran V
Shaji
,
Biju
George
,
Eunice Sindhuvi
Edison
Journal of Clinical Pathology
Mar 2021,
74
(3)
157-162;
DOI:
10.1136/jclinpath-2020-206647
Xp11 translocation renal cell carcinoma with morphological features mimicking multilocular cystic renal neoplasm of low malignant potential: a series of six cases with molecular analysis
Yankun
Song
,
Xiaoxue
Yin
,
Qiuyuan
Xia
,
Linmao
Zheng
,
Jin
Yao
,
Hao
Zeng
,
Ling
Nie
,
Jing
Gong
,
Qiao
Zhou
,
Ni
Chen
Journal of Clinical Pathology
Mar 2021,
74
(3)
171-176;
DOI:
10.1136/jclinpath-2020-206681
Next-generation sequencing demonstrates the rarity of short kinase variants specific to quadruple wild-type gastrointestinal stromal tumours
Newton A C S
Wong
,
Olivier T
Giger
,
Rogier
ten Hoopen
,
Ruth T
Casey
,
Kirsty
Russell
,
Claire
Faulkner
Journal of Clinical Pathology
Mar 2021,
74
(3)
194-197;
DOI:
10.1136/jclinpath-2020-206613
Gene of the month:
GTF2I
Shrinidhi
Nathany
,
Rupal
Tripathi
,
Anurag
Mehta
Journal of Clinical Pathology
Jan 2021,
74
(1)
1-4;
DOI:
10.1136/jclinpath-2020-207013
Gene of the month:
TMPRSS2
(transmembrane serine protease 2)
Michelle
Thunders
,
Brett
Delahunt
Journal of Clinical Pathology
Dec 2020,
73
(12)
773-776;
DOI:
10.1136/jclinpath-2020-206987
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