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The prevalence and phenotypic range associated with biallel..:

Pagnamenta, AT ; Belles, RS ; Salbert, BA...
https://discovery.ucl.ac.uk/id/eprint/10168391/1/The%20prevalence%20and%20phenotypic%20range%20associated%20with%20biallelic%20PKDCC%20variants.pdf. , 2023

Link: https://discovery.ucl.ac.uk/id/eprint/10168391/1/The%2..

RT Journal
T1 <Title>The prevalence and phenotypic range associated with biallelic PKDCC variants</Title>

UL https://suche.suub.uni-bremen.de/peid=base-ftucl:oai:eprints.ucl.ac.uk.OAI2:10168391&Exemplar=1&LAN=DE
				
A1 Pagnamenta, AT
A1 Belles, RS
A1 Salbert, BA
A1 Wentzensen, IM
A1 Guillen Sacoto, MJ
A1 Santos, FJR
A1 Caffo, A
A1 Ferla, M
A1 Banos-Pinero, B
A1 Pawliczak, K
A1 Makvand, M
A1 Najmabadi, H
A1 Maroofian, R
A1 Lester, T
A1 Yanez-Felix, AL
A1 Villarroel-Cortes, CE
A1 Xia, F
A1 Al Fayez, K
A1 Al Hashem, A
A1 Shears, D
A1 Irving, M
A1 Offiah, AC
A1 Kariminejad, A
A1 Taylor, JC
PB Wiley
YR 2023
K1 bone diseases
K1 medical genetics
K1 skeletal dysplasia
K1 whole genome sequencing
JF https://discovery.ucl.ac.uk/id/eprint/10168391/1/The%20prevalence%20and%20phenotypic%20range%20associated%20with%20biallelic%20PKDCC%20variants.pdf
LK http://dx.doi.org/https://discovery.ucl.ac.uk/id/eprint/10168391/1/The%20prevalence%20and%20phenotypic%20range%20associated%20with%20biallelic%20PKDCC%20variants.pdf
DO https://discovery.ucl.ac.uk/id/eprint/10168391/1/The%20prevalence%20and%20phenotypic%20range%20associated%20with%20biallelic%20PKDCC%20variants.pdf
SF ELIB - SuUB Bremen

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