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17p12-p11.2
A chromosome band present on 17p
National Institutes of Health
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Related topics
Related topics
5 relations
ADORA2B wt Allele
Chromosome 17 Short Arm
Chromosomes
PMP22 wt Allele
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Papers overview
Semantic Scholar uses AI to extract papers important to this topic.
Review
2017
Review
2017
A New Patient with Potocki–Lupski Syndrome: A Literature Review
A. Praticò
,
R. Falsaperla
,
R. Rizzo
,
M. Ruggieri
,
A. Verrotti
,
P. Pavone
Journal of Pediatric Genetics
2017
Corpus ID: 3368879
Abstract Speech delay, intellectual disability, and behavioral disturbances are the main clinical manifestations of Potocki…
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2017
2017
Unusual de novo Partial Trisomy 17p12p11.2 due to Unbalanced Insertion into 5p13.1 in a Severely Affected Boy
L. Méndez-Rosado
,
A. Lantigua
,
J. Galarza
,
Ahmed B. Hamid Al-Rikabi
,
M. Ziegler
,
T. Liehr
Journal of Pediatric Genetics
2017
Corpus ID: 204986301
Abstract Gain of copy numbers can be due to different chromosomal rearrangements such as direct or indirect duplications…
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1998
1998
Four novel mutations of the connexin 32 gene in four Japanese families with Charcot-Marie-Tooth disease type 1.
T. Ikegami
,
C. Lin
,
+7 authors
K. Hayasaka
American journal of medical genetics
1998
Corpus ID: 9860014
DNA-based mutation analysis on the connexin 32 gene was performed in 49 families with Charcot-Marie-Tooth disease (CMT) type 1…
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